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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased 47,XXX in Systemic Lupus Erythematosus and Sjögren’s Syndrome</title><author><name sortKey="Liu, Ke" sort="Liu, Ke" uniqKey="Liu K" first="Ke" last="Liu">Ke Liu</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A2">College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Kurien, Biji T" sort="Kurien, Biji T" uniqKey="Kurien B" first="Biji T." last="Kurien">Biji T. Kurien</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">U.S. Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Zimmerman, Sarah L" sort="Zimmerman, Sarah L" uniqKey="Zimmerman S" first="Sarah L." last="Zimmerman">Sarah L. Zimmerman</name><affiliation><nlm:aff id="A6">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA</nlm:aff></affiliation></author><author><name sortKey="Kaufman, Kenneth M" sort="Kaufman, Kenneth M" uniqKey="Kaufman K" first="Kenneth M." last="Kaufman">Kenneth M. Kaufman</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A7">U.S. Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Taft, Diana H" sort="Taft, Diana H" uniqKey="Taft D" first="Diana H." last="Taft">Diana H. Taft</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Kottyan, Leah C" sort="Kottyan, Leah C" uniqKey="Kottyan L" first="Leah C." last="Kottyan">Leah C. Kottyan</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Lazaro, Sara" sort="Lazaro, Sara" uniqKey="Lazaro S" first="Sara" last="Lazaro">Sara Lazaro</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Weaver, Carrie A" sort="Weaver, Carrie A" uniqKey="Weaver C" first="Carrie A." last="Weaver">Carrie A. Weaver</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Ice, John A" sort="Ice, John A" uniqKey="Ice J" first="John A." last="Ice">John A. Ice</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Adler, Adam J" sort="Adler, Adam J" uniqKey="Adler A" first="Adam J." last="Adler">Adam J. Adler</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">U.S. Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Chodosh, James" sort="Chodosh, James" uniqKey="Chodosh J" first="James" last="Chodosh">James Chodosh</name><affiliation><nlm:aff id="A8">Department of Ophthalmology, Howe Laboratory, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Radfar, Lida" sort="Radfar, Lida" uniqKey="Radfar L" first="Lida" last="Radfar">Lida Radfar</name><affiliation><nlm:aff id="A9">Department of Oral Diagnosis and Radiology, College of Dentistry, University of Oklahoma Health Sciences Center, Oklahoma City, USA</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Stone, Donald U" sort="Stone, Donald U" uniqKey="Stone D" first="Donald U." last="Stone">Donald U. Stone</name><affiliation><nlm:aff id="A10">Dean McGee Eye Institute and Department of Ophthalmology, University of Oklahoma College of Medicine, Oklahoma City, OK, USA</nlm:aff></affiliation></author><author><name sortKey="Lewis, David M" sort="Lewis, David M" uniqKey="Lewis D" first="David M." last="Lewis">David M. Lewis</name><affiliation><nlm:aff id="A9">Department of Oral Diagnosis and Radiology, College of Dentistry, University of Oklahoma Health Sciences Center, Oklahoma City, USA</nlm:aff></affiliation></author><author><name sortKey="Li, Shibo" sort="Li, Shibo" uniqKey="Li S" first="Shibo" last="Li">Shibo Li</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Koelsch, Kristi A" sort="Koelsch, Kristi A" uniqKey="Koelsch K" first="Kristi A." last="Koelsch">Kristi A. Koelsch</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Igoe, Ann" sort="Igoe, Ann" uniqKey="Igoe A" first="Ann" last="Igoe">Ann Igoe</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Talsania, Mitali" sort="Talsania, Mitali" uniqKey="Talsania M" first="Mitali" last="Talsania">Mitali Talsania</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Kumar, Jay" sort="Kumar, Jay" uniqKey="Kumar J" first="Jay" last="Kumar">Jay Kumar</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Maier Moore, Jacen S" sort="Maier Moore, Jacen S" uniqKey="Maier Moore J" first="Jacen S." last="Maier-Moore">Jacen S. Maier-Moore</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">U.S. Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Department of Clinical Laboratory Sciences, University of Texas at El Paso, El Paso, TX 79968</nlm:aff></affiliation></author><author><name sortKey="Harris, Valerie M" sort="Harris, Valerie M" uniqKey="Harris V" first="Valerie M." last="Harris">Valerie M. Harris</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Gopalakrishnan, Rajaram" sort="Gopalakrishnan, Rajaram" uniqKey="Gopalakrishnan R" first="Rajaram" last="Gopalakrishnan">Rajaram Gopalakrishnan</name><affiliation><nlm:aff id="A12">Department of Developmental and Surgical Sciences, University of Minnesota, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Jonsson, Roland" sort="Jonsson, Roland" uniqKey="Jonsson R" first="Roland" last="Jonsson">Roland Jonsson</name><affiliation><nlm:aff id="A13">Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen 5021, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Rheumatology, Haukeland University Hospital, Bergen 5021, Norway</nlm:aff></affiliation></author><author><name sortKey="Lessard, James A" sort="Lessard, James A" uniqKey="Lessard J" first="James A." last="Lessard">James A. Lessard</name><affiliation><nlm:aff id="A15">Valley Bone & Joint Clinic, 3035 DeMers Avenue, Grand Forks, ND 58201, USA</nlm:aff></affiliation></author><author><name sortKey="Lu, Xianglan" sort="Lu, Xianglan" uniqKey="Lu X" first="Xianglan" last="Lu">Xianglan Lu</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Gottenberg, Jacques Eric" sort="Gottenberg, Jacques Eric" uniqKey="Gottenberg J" first="Jacques-Eric" last="Gottenberg">Jacques-Eric Gottenberg</name><affiliation><nlm:aff id="A16">Strasbourg University, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Anaya, Juan Manuel" sort="Anaya, Juan Manuel" uniqKey="Anaya J" first="Juan-Manuel" last="Anaya">Juan-Manuel Anaya</name><affiliation><nlm:aff id="A17">Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Bogota, Colombia</nlm:aff></affiliation></author><author><name sortKey="Cunninghame Graham, Deborah S" sort="Cunninghame Graham, Deborah S" uniqKey="Cunninghame Graham D" first="Deborah S." last="Cunninghame-Graham">Deborah S. Cunninghame-Graham</name><affiliation><nlm:aff id="A18">Division of Genetics and Molecular Medicine and Division of Immunology, Infection and Inflammatory Disease, King’s College London, London</nlm:aff></affiliation></author><author><name sortKey="Huang, Andrew J W" sort="Huang, Andrew J W" uniqKey="Huang A" first="Andrew J. W." last="Huang">Andrew J. W. Huang</name><affiliation><nlm:aff id="A12">Department of Developmental and Surgical Sciences, University of Minnesota, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Brennan, Michael T" sort="Brennan, Michael T" uniqKey="Brennan M" first="Michael T." last="Brennan">Michael T. Brennan</name><affiliation><nlm:aff id="A19">Department of Oral Medicine, Carolinas Medical Center, Charlotte, NC 28232, USA</nlm:aff></affiliation></author><author><name sortKey="Hughes, Pamela" sort="Hughes, Pamela" uniqKey="Hughes P" first="Pamela" last="Hughes">Pamela Hughes</name><affiliation><nlm:aff id="A12">Department of Developmental and Surgical Sciences, University of Minnesota, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Illei, Gabor G" sort="Illei, Gabor G" uniqKey="Illei G" first="Gabor G." last="Illei">Gabor G. Illei</name><affiliation><nlm:aff id="A20">Sjögren’s Syndrome Clinic, National Institute of Dental and Craniofacial Research, Molecular Physiology and Therapeutics Branch, National Institutes of Health, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Miceli Richard, Corinne" sort="Miceli Richard, Corinne" uniqKey="Miceli Richard C" first="Corinne" last="Miceli-Richard">Corinne Miceli-Richard</name><affiliation><nlm:aff id="A21">Department of Rheumatology, Université Paris-Sud, AP-HP, INSERM U1012, Le Kremlin-Bicêtre, France</nlm:aff></affiliation></author><author><name sortKey="Keystone, Edward C" sort="Keystone, Edward C" uniqKey="Keystone E" first="Edward C." last="Keystone">Edward C. Keystone</name><affiliation><nlm:aff id="A22">Department of Medicine, Mount Sinai Hospital and University of Toronto, Toronto, Ontario</nlm:aff></affiliation></author><author><name sortKey="Bykerk, Vivian P" sort="Bykerk, Vivian P" uniqKey="Bykerk V" first="Vivian P." last="Bykerk">Vivian P. Bykerk</name><affiliation><nlm:aff id="A23">Hospital for Special Surgery, New York, USA</nlm:aff></affiliation></author><author><name sortKey="Hirschfield, Gideon" sort="Hirschfield, Gideon" uniqKey="Hirschfield G" first="Gideon" last="Hirschfield">Gideon Hirschfield</name><affiliation><nlm:aff id="A24">NIHR Biomedical Research Unit, University of Birmingham, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Xie, Gang" sort="Xie, Gang" uniqKey="Xie G" first="Gang" last="Xie">Gang Xie</name><affiliation><nlm:aff id="A25">Lunenfeld Tanenbaum and Toronto General Research Institutes, Departments of Medicine, Immunology and Molecular Genetics, University of Toronto, Toronto Ontario</nlm:aff></affiliation></author><author><name sortKey="Ng, Wan Fai" sort="Ng, Wan Fai" uniqKey="Ng W" first="Wan-Fai" last="Ng">Wan-Fai Ng</name><affiliation><nlm:aff id="A26">Musculoskeletal Research Group, Institute of Cellular Medicine & NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Nordmark, Gunnel" sort="Nordmark, Gunnel" uniqKey="Nordmark G" first="Gunnel" last="Nordmark">Gunnel Nordmark</name><affiliation><nlm:aff id="A27">Section of Rheumatology, Department of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden</nlm:aff></affiliation></author><author><name sortKey="Eriksson, Per" sort="Eriksson, Per" uniqKey="Eriksson P" first="Per" last="Eriksson">Per Eriksson</name><affiliation><nlm:aff id="A28">Rheumatology, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden</nlm:aff></affiliation></author><author><name sortKey="Omdal, Roald" sort="Omdal, Roald" uniqKey="Omdal R" first="Roald" last="Omdal">Roald Omdal</name><affiliation><nlm:aff id="A29">Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway</nlm:aff></affiliation></author><author><name sortKey="Rhodus, Nelson L" sort="Rhodus, Nelson L" uniqKey="Rhodus N" first="Nelson L." last="Rhodus">Nelson L. Rhodus</name><affiliation><nlm:aff id="A30">Department of Diagnostic and Biological Sciences, School of Dentistry, University of Minnesota, Minneapolis, USA</nlm:aff></affiliation></author><author><name sortKey="Rischmueller, Maureen" sort="Rischmueller, Maureen" uniqKey="Rischmueller M" first="Maureen" last="Rischmueller">Maureen Rischmueller</name><affiliation><nlm:aff id="A31">Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, SA 5011, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Discipline of Medicine, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Rohrer, Michael" sort="Rohrer, Michael" uniqKey="Rohrer M" first="Michael" last="Rohrer">Michael Rohrer</name><affiliation><nlm:aff id="A12">Department of Developmental and Surgical Sciences, University of Minnesota, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Segal, Barbara M" sort="Segal, Barbara M" uniqKey="Segal B" first="Barbara M." last="Segal">Barbara M. Segal</name><affiliation><nlm:aff id="A33">Department of Medicine, University of Minnesota Medical School, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Vyse, Timothy J" sort="Vyse, Timothy J" uniqKey="Vyse T" first="Timothy J." last="Vyse">Timothy J. Vyse</name><affiliation><nlm:aff id="A18">Division of Genetics and Molecular Medicine and Division of Immunology, Infection and Inflammatory Disease, King’s College London, London</nlm:aff></affiliation></author><author><name sortKey="Wahren Herlenius, Marie" sort="Wahren Herlenius, Marie" uniqKey="Wahren Herlenius M" first="Marie" last="Wahren-Herlenius">Marie Wahren-Herlenius</name><affiliation><nlm:aff id="A34">Rheumatology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Witte, Torsten" sort="Witte, Torsten" uniqKey="Witte T" first="Torsten" last="Witte">Torsten Witte</name><affiliation><nlm:aff id="A35">Clinic for Immunology and Rheumatology, Hannover Medical School, 30625 Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Pons Estel, Bernardo" sort="Pons Estel, Bernardo" uniqKey="Pons Estel B" first="Bernardo" last="Pons-Estel">Bernardo Pons-Estel</name><affiliation><nlm:aff id="A37">Sanatorio Parque, Rosario, Argentina</nlm:aff></affiliation></author><author><name sortKey="Alarcon Riquelme, Marta E" sort="Alarcon Riquelme, Marta E" uniqKey="Alarcon Riquelme M" first="Marta E." last="Alarcon-Riquelme">Marta E. Alarcon-Riquelme</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A38">Center Pfizer, University of Granada, Andalusian Government for Genomics and Oncological Research, PTS Granada, 18016, Spain</nlm:aff></affiliation></author><author><name sortKey="Guthridge, Joel M" sort="Guthridge, Joel M" uniqKey="Guthridge J" first="Joel M." last="Guthridge">Joel M. Guthridge</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="James, Judith A" sort="James, Judith A" uniqKey="James J" first="Judith A." last="James">Judith A. James</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Lessard, Christopher J" sort="Lessard, Christopher J" uniqKey="Lessard C" first="Christopher J." last="Lessard">Christopher J. Lessard</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Kelly, Jennifer A" sort="Kelly, Jennifer A" uniqKey="Kelly J" first="Jennifer A." last="Kelly">Jennifer A. Kelly</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Thompson, Susan D" sort="Thompson, Susan D" uniqKey="Thompson S" first="Susan D." last="Thompson">Susan D. Thompson</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Gaffney, Patrick M" sort="Gaffney, Patrick M" uniqKey="Gaffney P" first="Patrick M." last="Gaffney">Patrick M. Gaffney</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Montgomery, Courtney G" sort="Montgomery, Courtney G" uniqKey="Montgomery C" first="Courtney G." last="Montgomery">Courtney G. Montgomery</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Edberg, Jeffrey C" sort="Edberg, Jeffrey C" uniqKey="Edberg J" first="Jeffrey C" last="Edberg">Jeffrey C. Edberg</name><affiliation><nlm:aff id="A39">Division of Clinical Immunology and Rheumatology, University of Alabama, Birmingham, AL</nlm:aff></affiliation></author><author><name sortKey="Kimberly, Robert P" sort="Kimberly, Robert P" uniqKey="Kimberly R" first="Robert P" last="Kimberly">Robert P. Kimberly</name><affiliation><nlm:aff id="A39">Division of Clinical Immunology and Rheumatology, University of Alabama, Birmingham, AL</nlm:aff></affiliation></author><author><name sortKey="Alarc N, Graciela S" sort="Alarc N, Graciela S" uniqKey="Alarc N G" first="Graciela S." last="Alarc N">Graciela S. Alarc N</name><affiliation><nlm:aff id="A39">Division of Clinical Immunology and Rheumatology, University of Alabama, Birmingham, AL</nlm:aff></affiliation></author><author><name sortKey="Langefeld, Carl L" sort="Langefeld, Carl L" uniqKey="Langefeld C" first="Carl L." last="Langefeld">Carl L. Langefeld</name><affiliation><nlm:aff id="A40">Center for Public Health Genomics and Department of Biostatistical Sciences, Division of Public Health Sciences, Wake Forest University, Winston-Salem, NC</nlm:aff></affiliation></author><author><name sortKey="Gilkeson, Gary S" sort="Gilkeson, Gary S" uniqKey="Gilkeson G" first="Gary S." last="Gilkeson">Gary S. Gilkeson</name><affiliation><nlm:aff id="A41">Division of Rheumatology & Immunology, Medical University of South Carolina, Charleston, SC</nlm:aff></affiliation><affiliation><nlm:aff id="A42">Ralph H. Johnson VA Medical Center, Charleston, SC</nlm:aff></affiliation></author><author><name sortKey="Kamen, Diane L" sort="Kamen, Diane L" uniqKey="Kamen D" first="Diane L." last="Kamen">Diane L. Kamen</name><affiliation><nlm:aff id="A41">Division of Rheumatology & Immunology, Medical University of South Carolina, Charleston, SC</nlm:aff></affiliation></author><author><name sortKey="Tsao, Betty P" sort="Tsao, Betty P" uniqKey="Tsao B" first="Betty P." last="Tsao">Betty P. Tsao</name><affiliation><nlm:aff id="A43">Division of Rheumatology, Department of Medicine, UCLA School of Medicine</nlm:aff></affiliation></author><author><name sortKey="Mccune, W Joseph" sort="Mccune, W Joseph" uniqKey="Mccune W" first="W. Joseph" last="Mccune">W. Joseph Mccune</name><affiliation><nlm:aff id="A44"> Division of Rheumatology, Department of Medicine, University of Michigan College of Medicine, Ann Arbor, Michigan</nlm:aff></affiliation></author><author><name sortKey="Salmon, Jane E" sort="Salmon, Jane E" uniqKey="Salmon J" first="Jane E." last="Salmon">Jane E. Salmon</name><affiliation><nlm:aff id="A45">Division of Rheumatology, Hospital for Special Surgery and Weill Cornell Medical College, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Merrill, Joan T" sort="Merrill, Joan T" uniqKey="Merrill J" first="Joan T." last="Merrill">Joan T. Merrill</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Weisman, Michael H" sort="Weisman, Michael H" uniqKey="Weisman M" first="Michael H" last="Weisman">Michael H. Weisman</name><affiliation><nlm:aff id="A46">Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA</nlm:aff></affiliation></author><author><name sortKey="Wallace, Daniel J" sort="Wallace, Daniel J" uniqKey="Wallace D" first="Daniel J" last="Wallace">Daniel J. Wallace</name><affiliation><nlm:aff id="A46">Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA</nlm:aff></affiliation></author><author><name sortKey="Utset, Tammy O" sort="Utset, Tammy O" uniqKey="Utset T" first="Tammy O" last="Utset">Tammy O. Utset</name><affiliation><nlm:aff id="A47">University of Chicago Pritzker School of Medicine, Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Bottinger, Erwin P" sort="Bottinger, Erwin P" uniqKey="Bottinger E" first="Erwin P." last="Bottinger">Erwin P. Bottinger</name><affiliation><nlm:aff id="A48">Charles R. Bronfman Institute for personalized medicine, Mount Sinai Hospital, 1468 Madison Avenue, New York, NY 10029</nlm:aff></affiliation></author><author><name sortKey="Amos, Christopher I" sort="Amos, Christopher I" uniqKey="Amos C" first="Christopher I." last="Amos">Christopher I. Amos</name><affiliation><nlm:aff id="A49">Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA</nlm:aff></affiliation></author><author><name sortKey="Siminovitch, Katherine A" sort="Siminovitch, Katherine A" uniqKey="Siminovitch K" first="Katherine A." last="Siminovitch">Katherine A. Siminovitch</name><affiliation><nlm:aff id="A25">Lunenfeld Tanenbaum and Toronto General Research Institutes, Departments of Medicine, Immunology and Molecular Genetics, University of Toronto, Toronto Ontario</nlm:aff></affiliation></author><author><name sortKey="Mariette, Xavier" sort="Mariette, Xavier" uniqKey="Mariette X" first="Xavier" last="Mariette">Xavier Mariette</name><affiliation><nlm:aff id="A36">Rhumatologie, Responsable de l’Unité de Recherche Clinique Hôpitaux Universitaire Paris-Sud Université Paris-Sud, INSERM U1184 Head of Autoimmunity team, IMVA : Immunology of viral Infections and Autoimmune Diseases</nlm:aff></affiliation></author><author><name sortKey="Sivils, Kathy L" sort="Sivils, Kathy L" uniqKey="Sivils K" first="Kathy L." last="Sivils">Kathy L. Sivils</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Harley, John B" sort="Harley, John B" uniqKey="Harley J" first="John B." last="Harley">John B. Harley</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A2">College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A7">U.S. Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Scofield, R Hal" sort="Scofield, R Hal" uniqKey="Scofield R" first="R. Hal" last="Scofield">R. Hal Scofield</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">U.S. Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26713507</idno><idno type="pmc">5019501</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5019501</idno><idno type="RBID">PMC:5019501</idno><idno type="doi">10.1002/art.39560</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">001E89</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E89</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased 47,XXX in Systemic Lupus Erythematosus and Sjögren’s Syndrome</title><author><name sortKey="Liu, Ke" sort="Liu, Ke" uniqKey="Liu K" first="Ke" last="Liu">Ke Liu</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A2">College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Kurien, Biji T" sort="Kurien, Biji T" uniqKey="Kurien B" first="Biji T." last="Kurien">Biji T. Kurien</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">U.S. Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Zimmerman, Sarah L" sort="Zimmerman, Sarah L" uniqKey="Zimmerman S" first="Sarah L." last="Zimmerman">Sarah L. Zimmerman</name><affiliation><nlm:aff id="A6">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA</nlm:aff></affiliation></author><author><name sortKey="Kaufman, Kenneth M" sort="Kaufman, Kenneth M" uniqKey="Kaufman K" first="Kenneth M." last="Kaufman">Kenneth M. Kaufman</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A7">U.S. Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Taft, Diana H" sort="Taft, Diana H" uniqKey="Taft D" first="Diana H." last="Taft">Diana H. Taft</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Kottyan, Leah C" sort="Kottyan, Leah C" uniqKey="Kottyan L" first="Leah C." last="Kottyan">Leah C. Kottyan</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Lazaro, Sara" sort="Lazaro, Sara" uniqKey="Lazaro S" first="Sara" last="Lazaro">Sara Lazaro</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Weaver, Carrie A" sort="Weaver, Carrie A" uniqKey="Weaver C" first="Carrie A." last="Weaver">Carrie A. Weaver</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Ice, John A" sort="Ice, John A" uniqKey="Ice J" first="John A." last="Ice">John A. Ice</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Adler, Adam J" sort="Adler, Adam J" uniqKey="Adler A" first="Adam J." last="Adler">Adam J. Adler</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">U.S. Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Chodosh, James" sort="Chodosh, James" uniqKey="Chodosh J" first="James" last="Chodosh">James Chodosh</name><affiliation><nlm:aff id="A8">Department of Ophthalmology, Howe Laboratory, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Radfar, Lida" sort="Radfar, Lida" uniqKey="Radfar L" first="Lida" last="Radfar">Lida Radfar</name><affiliation><nlm:aff id="A9">Department of Oral Diagnosis and Radiology, College of Dentistry, University of Oklahoma Health Sciences Center, Oklahoma City, USA</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Stone, Donald U" sort="Stone, Donald U" uniqKey="Stone D" first="Donald U." last="Stone">Donald U. Stone</name><affiliation><nlm:aff id="A10">Dean McGee Eye Institute and Department of Ophthalmology, University of Oklahoma College of Medicine, Oklahoma City, OK, USA</nlm:aff></affiliation></author><author><name sortKey="Lewis, David M" sort="Lewis, David M" uniqKey="Lewis D" first="David M." last="Lewis">David M. Lewis</name><affiliation><nlm:aff id="A9">Department of Oral Diagnosis and Radiology, College of Dentistry, University of Oklahoma Health Sciences Center, Oklahoma City, USA</nlm:aff></affiliation></author><author><name sortKey="Li, Shibo" sort="Li, Shibo" uniqKey="Li S" first="Shibo" last="Li">Shibo Li</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Koelsch, Kristi A" sort="Koelsch, Kristi A" uniqKey="Koelsch K" first="Kristi A." last="Koelsch">Kristi A. Koelsch</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Igoe, Ann" sort="Igoe, Ann" uniqKey="Igoe A" first="Ann" last="Igoe">Ann Igoe</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Talsania, Mitali" sort="Talsania, Mitali" uniqKey="Talsania M" first="Mitali" last="Talsania">Mitali Talsania</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Kumar, Jay" sort="Kumar, Jay" uniqKey="Kumar J" first="Jay" last="Kumar">Jay Kumar</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Maier Moore, Jacen S" sort="Maier Moore, Jacen S" uniqKey="Maier Moore J" first="Jacen S." last="Maier-Moore">Jacen S. Maier-Moore</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">U.S. Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Department of Clinical Laboratory Sciences, University of Texas at El Paso, El Paso, TX 79968</nlm:aff></affiliation></author><author><name sortKey="Harris, Valerie M" sort="Harris, Valerie M" uniqKey="Harris V" first="Valerie M." last="Harris">Valerie M. Harris</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Gopalakrishnan, Rajaram" sort="Gopalakrishnan, Rajaram" uniqKey="Gopalakrishnan R" first="Rajaram" last="Gopalakrishnan">Rajaram Gopalakrishnan</name><affiliation><nlm:aff id="A12">Department of Developmental and Surgical Sciences, University of Minnesota, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Jonsson, Roland" sort="Jonsson, Roland" uniqKey="Jonsson R" first="Roland" last="Jonsson">Roland Jonsson</name><affiliation><nlm:aff id="A13">Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen 5021, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Rheumatology, Haukeland University Hospital, Bergen 5021, Norway</nlm:aff></affiliation></author><author><name sortKey="Lessard, James A" sort="Lessard, James A" uniqKey="Lessard J" first="James A." last="Lessard">James A. Lessard</name><affiliation><nlm:aff id="A15">Valley Bone & Joint Clinic, 3035 DeMers Avenue, Grand Forks, ND 58201, USA</nlm:aff></affiliation></author><author><name sortKey="Lu, Xianglan" sort="Lu, Xianglan" uniqKey="Lu X" first="Xianglan" last="Lu">Xianglan Lu</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Gottenberg, Jacques Eric" sort="Gottenberg, Jacques Eric" uniqKey="Gottenberg J" first="Jacques-Eric" last="Gottenberg">Jacques-Eric Gottenberg</name><affiliation><nlm:aff id="A16">Strasbourg University, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Anaya, Juan Manuel" sort="Anaya, Juan Manuel" uniqKey="Anaya J" first="Juan-Manuel" last="Anaya">Juan-Manuel Anaya</name><affiliation><nlm:aff id="A17">Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Bogota, Colombia</nlm:aff></affiliation></author><author><name sortKey="Cunninghame Graham, Deborah S" sort="Cunninghame Graham, Deborah S" uniqKey="Cunninghame Graham D" first="Deborah S." last="Cunninghame-Graham">Deborah S. Cunninghame-Graham</name><affiliation><nlm:aff id="A18">Division of Genetics and Molecular Medicine and Division of Immunology, Infection and Inflammatory Disease, King’s College London, London</nlm:aff></affiliation></author><author><name sortKey="Huang, Andrew J W" sort="Huang, Andrew J W" uniqKey="Huang A" first="Andrew J. W." last="Huang">Andrew J. W. Huang</name><affiliation><nlm:aff id="A12">Department of Developmental and Surgical Sciences, University of Minnesota, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Brennan, Michael T" sort="Brennan, Michael T" uniqKey="Brennan M" first="Michael T." last="Brennan">Michael T. Brennan</name><affiliation><nlm:aff id="A19">Department of Oral Medicine, Carolinas Medical Center, Charlotte, NC 28232, USA</nlm:aff></affiliation></author><author><name sortKey="Hughes, Pamela" sort="Hughes, Pamela" uniqKey="Hughes P" first="Pamela" last="Hughes">Pamela Hughes</name><affiliation><nlm:aff id="A12">Department of Developmental and Surgical Sciences, University of Minnesota, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Illei, Gabor G" sort="Illei, Gabor G" uniqKey="Illei G" first="Gabor G." last="Illei">Gabor G. Illei</name><affiliation><nlm:aff id="A20">Sjögren’s Syndrome Clinic, National Institute of Dental and Craniofacial Research, Molecular Physiology and Therapeutics Branch, National Institutes of Health, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Miceli Richard, Corinne" sort="Miceli Richard, Corinne" uniqKey="Miceli Richard C" first="Corinne" last="Miceli-Richard">Corinne Miceli-Richard</name><affiliation><nlm:aff id="A21">Department of Rheumatology, Université Paris-Sud, AP-HP, INSERM U1012, Le Kremlin-Bicêtre, France</nlm:aff></affiliation></author><author><name sortKey="Keystone, Edward C" sort="Keystone, Edward C" uniqKey="Keystone E" first="Edward C." last="Keystone">Edward C. Keystone</name><affiliation><nlm:aff id="A22">Department of Medicine, Mount Sinai Hospital and University of Toronto, Toronto, Ontario</nlm:aff></affiliation></author><author><name sortKey="Bykerk, Vivian P" sort="Bykerk, Vivian P" uniqKey="Bykerk V" first="Vivian P." last="Bykerk">Vivian P. Bykerk</name><affiliation><nlm:aff id="A23">Hospital for Special Surgery, New York, USA</nlm:aff></affiliation></author><author><name sortKey="Hirschfield, Gideon" sort="Hirschfield, Gideon" uniqKey="Hirschfield G" first="Gideon" last="Hirschfield">Gideon Hirschfield</name><affiliation><nlm:aff id="A24">NIHR Biomedical Research Unit, University of Birmingham, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Xie, Gang" sort="Xie, Gang" uniqKey="Xie G" first="Gang" last="Xie">Gang Xie</name><affiliation><nlm:aff id="A25">Lunenfeld Tanenbaum and Toronto General Research Institutes, Departments of Medicine, Immunology and Molecular Genetics, University of Toronto, Toronto Ontario</nlm:aff></affiliation></author><author><name sortKey="Ng, Wan Fai" sort="Ng, Wan Fai" uniqKey="Ng W" first="Wan-Fai" last="Ng">Wan-Fai Ng</name><affiliation><nlm:aff id="A26">Musculoskeletal Research Group, Institute of Cellular Medicine & NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Nordmark, Gunnel" sort="Nordmark, Gunnel" uniqKey="Nordmark G" first="Gunnel" last="Nordmark">Gunnel Nordmark</name><affiliation><nlm:aff id="A27">Section of Rheumatology, Department of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden</nlm:aff></affiliation></author><author><name sortKey="Eriksson, Per" sort="Eriksson, Per" uniqKey="Eriksson P" first="Per" last="Eriksson">Per Eriksson</name><affiliation><nlm:aff id="A28">Rheumatology, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden</nlm:aff></affiliation></author><author><name sortKey="Omdal, Roald" sort="Omdal, Roald" uniqKey="Omdal R" first="Roald" last="Omdal">Roald Omdal</name><affiliation><nlm:aff id="A29">Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway</nlm:aff></affiliation></author><author><name sortKey="Rhodus, Nelson L" sort="Rhodus, Nelson L" uniqKey="Rhodus N" first="Nelson L." last="Rhodus">Nelson L. Rhodus</name><affiliation><nlm:aff id="A30">Department of Diagnostic and Biological Sciences, School of Dentistry, University of Minnesota, Minneapolis, USA</nlm:aff></affiliation></author><author><name sortKey="Rischmueller, Maureen" sort="Rischmueller, Maureen" uniqKey="Rischmueller M" first="Maureen" last="Rischmueller">Maureen Rischmueller</name><affiliation><nlm:aff id="A31">Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, SA 5011, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Discipline of Medicine, University of Adelaide, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Rohrer, Michael" sort="Rohrer, Michael" uniqKey="Rohrer M" first="Michael" last="Rohrer">Michael Rohrer</name><affiliation><nlm:aff id="A12">Department of Developmental and Surgical Sciences, University of Minnesota, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Segal, Barbara M" sort="Segal, Barbara M" uniqKey="Segal B" first="Barbara M." last="Segal">Barbara M. Segal</name><affiliation><nlm:aff id="A33">Department of Medicine, University of Minnesota Medical School, Minneapolis, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Vyse, Timothy J" sort="Vyse, Timothy J" uniqKey="Vyse T" first="Timothy J." last="Vyse">Timothy J. Vyse</name><affiliation><nlm:aff id="A18">Division of Genetics and Molecular Medicine and Division of Immunology, Infection and Inflammatory Disease, King’s College London, London</nlm:aff></affiliation></author><author><name sortKey="Wahren Herlenius, Marie" sort="Wahren Herlenius, Marie" uniqKey="Wahren Herlenius M" first="Marie" last="Wahren-Herlenius">Marie Wahren-Herlenius</name><affiliation><nlm:aff id="A34">Rheumatology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Witte, Torsten" sort="Witte, Torsten" uniqKey="Witte T" first="Torsten" last="Witte">Torsten Witte</name><affiliation><nlm:aff id="A35">Clinic for Immunology and Rheumatology, Hannover Medical School, 30625 Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Pons Estel, Bernardo" sort="Pons Estel, Bernardo" uniqKey="Pons Estel B" first="Bernardo" last="Pons-Estel">Bernardo Pons-Estel</name><affiliation><nlm:aff id="A37">Sanatorio Parque, Rosario, Argentina</nlm:aff></affiliation></author><author><name sortKey="Alarcon Riquelme, Marta E" sort="Alarcon Riquelme, Marta E" uniqKey="Alarcon Riquelme M" first="Marta E." last="Alarcon-Riquelme">Marta E. Alarcon-Riquelme</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A38">Center Pfizer, University of Granada, Andalusian Government for Genomics and Oncological Research, PTS Granada, 18016, Spain</nlm:aff></affiliation></author><author><name sortKey="Guthridge, Joel M" sort="Guthridge, Joel M" uniqKey="Guthridge J" first="Joel M." last="Guthridge">Joel M. Guthridge</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="James, Judith A" sort="James, Judith A" uniqKey="James J" first="Judith A." last="James">Judith A. James</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Lessard, Christopher J" sort="Lessard, Christopher J" uniqKey="Lessard C" first="Christopher J." last="Lessard">Christopher J. Lessard</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Kelly, Jennifer A" sort="Kelly, Jennifer A" uniqKey="Kelly J" first="Jennifer A." last="Kelly">Jennifer A. Kelly</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Thompson, Susan D" sort="Thompson, Susan D" uniqKey="Thompson S" first="Susan D." last="Thompson">Susan D. Thompson</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Gaffney, Patrick M" sort="Gaffney, Patrick M" uniqKey="Gaffney P" first="Patrick M." last="Gaffney">Patrick M. Gaffney</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Montgomery, Courtney G" sort="Montgomery, Courtney G" uniqKey="Montgomery C" first="Courtney G." last="Montgomery">Courtney G. Montgomery</name><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Edberg, Jeffrey C" sort="Edberg, Jeffrey C" uniqKey="Edberg J" first="Jeffrey C" last="Edberg">Jeffrey C. Edberg</name><affiliation><nlm:aff id="A39">Division of Clinical Immunology and Rheumatology, University of Alabama, Birmingham, AL</nlm:aff></affiliation></author><author><name sortKey="Kimberly, Robert P" sort="Kimberly, Robert P" uniqKey="Kimberly R" first="Robert P" last="Kimberly">Robert P. Kimberly</name><affiliation><nlm:aff id="A39">Division of Clinical Immunology and Rheumatology, University of Alabama, Birmingham, AL</nlm:aff></affiliation></author><author><name sortKey="Alarc N, Graciela S" sort="Alarc N, Graciela S" uniqKey="Alarc N G" first="Graciela S." last="Alarc N">Graciela S. Alarc N</name><affiliation><nlm:aff id="A39">Division of Clinical Immunology and Rheumatology, University of Alabama, Birmingham, AL</nlm:aff></affiliation></author><author><name sortKey="Langefeld, Carl L" sort="Langefeld, Carl L" uniqKey="Langefeld C" first="Carl L." last="Langefeld">Carl L. Langefeld</name><affiliation><nlm:aff id="A40">Center for Public Health Genomics and Department of Biostatistical Sciences, Division of Public Health Sciences, Wake Forest University, Winston-Salem, NC</nlm:aff></affiliation></author><author><name sortKey="Gilkeson, Gary S" sort="Gilkeson, Gary S" uniqKey="Gilkeson G" first="Gary S." last="Gilkeson">Gary S. Gilkeson</name><affiliation><nlm:aff id="A41">Division of Rheumatology & Immunology, Medical University of South Carolina, Charleston, SC</nlm:aff></affiliation><affiliation><nlm:aff id="A42">Ralph H. Johnson VA Medical Center, Charleston, SC</nlm:aff></affiliation></author><author><name sortKey="Kamen, Diane L" sort="Kamen, Diane L" uniqKey="Kamen D" first="Diane L." last="Kamen">Diane L. Kamen</name><affiliation><nlm:aff id="A41">Division of Rheumatology & Immunology, Medical University of South Carolina, Charleston, SC</nlm:aff></affiliation></author><author><name sortKey="Tsao, Betty P" sort="Tsao, Betty P" uniqKey="Tsao B" first="Betty P." last="Tsao">Betty P. Tsao</name><affiliation><nlm:aff id="A43">Division of Rheumatology, Department of Medicine, UCLA School of Medicine</nlm:aff></affiliation></author><author><name sortKey="Mccune, W Joseph" sort="Mccune, W Joseph" uniqKey="Mccune W" first="W. Joseph" last="Mccune">W. Joseph Mccune</name><affiliation><nlm:aff id="A44"> Division of Rheumatology, Department of Medicine, University of Michigan College of Medicine, Ann Arbor, Michigan</nlm:aff></affiliation></author><author><name sortKey="Salmon, Jane E" sort="Salmon, Jane E" uniqKey="Salmon J" first="Jane E." last="Salmon">Jane E. Salmon</name><affiliation><nlm:aff id="A45">Division of Rheumatology, Hospital for Special Surgery and Weill Cornell Medical College, New York, NY</nlm:aff></affiliation></author><author><name sortKey="Merrill, Joan T" sort="Merrill, Joan T" uniqKey="Merrill J" first="Joan T." last="Merrill">Joan T. Merrill</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Weisman, Michael H" sort="Weisman, Michael H" uniqKey="Weisman M" first="Michael H" last="Weisman">Michael H. Weisman</name><affiliation><nlm:aff id="A46">Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA</nlm:aff></affiliation></author><author><name sortKey="Wallace, Daniel J" sort="Wallace, Daniel J" uniqKey="Wallace D" first="Daniel J" last="Wallace">Daniel J. Wallace</name><affiliation><nlm:aff id="A46">Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA</nlm:aff></affiliation></author><author><name sortKey="Utset, Tammy O" sort="Utset, Tammy O" uniqKey="Utset T" first="Tammy O" last="Utset">Tammy O. Utset</name><affiliation><nlm:aff id="A47">University of Chicago Pritzker School of Medicine, Chicago, IL</nlm:aff></affiliation></author><author><name sortKey="Bottinger, Erwin P" sort="Bottinger, Erwin P" uniqKey="Bottinger E" first="Erwin P." last="Bottinger">Erwin P. Bottinger</name><affiliation><nlm:aff id="A48">Charles R. Bronfman Institute for personalized medicine, Mount Sinai Hospital, 1468 Madison Avenue, New York, NY 10029</nlm:aff></affiliation></author><author><name sortKey="Amos, Christopher I" sort="Amos, Christopher I" uniqKey="Amos C" first="Christopher I." last="Amos">Christopher I. Amos</name><affiliation><nlm:aff id="A49">Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA</nlm:aff></affiliation></author><author><name sortKey="Siminovitch, Katherine A" sort="Siminovitch, Katherine A" uniqKey="Siminovitch K" first="Katherine A." last="Siminovitch">Katherine A. Siminovitch</name><affiliation><nlm:aff id="A25">Lunenfeld Tanenbaum and Toronto General Research Institutes, Departments of Medicine, Immunology and Molecular Genetics, University of Toronto, Toronto Ontario</nlm:aff></affiliation></author><author><name sortKey="Mariette, Xavier" sort="Mariette, Xavier" uniqKey="Mariette X" first="Xavier" last="Mariette">Xavier Mariette</name><affiliation><nlm:aff id="A36">Rhumatologie, Responsable de l’Unité de Recherche Clinique Hôpitaux Universitaire Paris-Sud Université Paris-Sud, INSERM U1184 Head of Autoimmunity team, IMVA : Immunology of viral Infections and Autoimmune Diseases</nlm:aff></affiliation></author><author><name sortKey="Sivils, Kathy L" sort="Sivils, Kathy L" uniqKey="Sivils K" first="Kathy L." last="Sivils">Kathy L. Sivils</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author><author><name sortKey="Harley, John B" sort="Harley, John B" uniqKey="Harley J" first="John B." last="Harley">John B. Harley</name><affiliation><nlm:aff id="A1">Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A2">College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A7">U.S. Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Scofield, R Hal" sort="Scofield, R Hal" uniqKey="Scofield R" first="R. Hal" last="Scofield">R. Hal Scofield</name><affiliation><nlm:aff id="A3">College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A5">U.S. Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Arthritis & rheumatology (Hoboken, N.J.)</title><idno type="ISSN">2326-5191</idno><idno type="eISSN">2326-5205</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Objective</title><p id="P1">More than 80% of autoimmune disease is female dominant, but the mechanism for this female bias is poorly understood. We suspected an X chromosome dose effect and hypothesized that trisomy X (47,XXX , 1 in ~1,000 live female births) would be increased in female predominant diseases (e.g. systemic lupus erythematosus [SLE], primary Sjögren’s syndrome [SS], primary biliary cirrhosis [PBC] and rheumatoid arthritis [RA]) compared to diseases without female predominance (sarcoidosis) and controls.</p></sec><sec id="S2"><title>Methods</title><p id="P2">We identified 47,XXX subjects using aggregate data from single nucleotide polymorphism (SNP) arrays and confirmed, when possible, by fluorescent in situ hybridization (FISH) or quantitative polymerase chain reaction (q-PCR).</p></sec><sec id="S3"><title>Results</title><p id="P3">We found 47,XXX in seven of 2,826 SLE and three of 1,033 SS female patients, but only in two of the 7,074 female controls (p=0.003, OR=8.78, 95% CI: 1.67-86.79 and p=0.02, OR=10.29, 95% CI: 1.18-123.47; respectively). One 47,XXX subject was present for ~404 SLE women and ~344 SS women. 47,XXX was present in excess among SLE and SS subjects.</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">The estimated prevalence of SLE and SS in women with 47,XXX was respectively ~2.5 and ~2.9 times higher than in 46,XX women and ~25 and ~41 times higher than in 46,XY men. No statistically significant increase of 47,XXX was observed in other female-biased diseases (PBC or RA), supporting the idea of multiple pathways to sex bias in autoimmunity.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101623795</journal-id><journal-id journal-id-type="pubmed-jr-id">42112</journal-id><journal-id journal-id-type="nlm-ta">Arthritis Rheumatol</journal-id><journal-title-group><journal-title>Arthritis & rheumatology (Hoboken, N.J.)</journal-title></journal-title-group><issn pub-type="ppub">2326-5191</issn><issn pub-type="epub">2326-5205</issn></journal-meta><article-meta><article-id pub-id-type="pmid">26713507</article-id><article-id pub-id-type="pmc">5019501</article-id><article-id pub-id-type="doi">10.1002/art.39560</article-id><article-id pub-id-type="manuscript">NIHMS809756</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased 47,XXX in Systemic Lupus Erythematosus and Sjögren’s Syndrome</article-title></title-group><contrib-group><contrib 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Hal</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A5">5</xref><xref ref-type="corresp" rid="CR1">*</xref></contrib></contrib-group><aff id="A1"><label>1</label>Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</aff><aff id="A2"><label>2</label>College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA</aff><aff id="A3"><label>3</label>College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA</aff><aff id="A4"><label>4</label>Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA</aff><aff id="A5"><label>5</label>U.S. Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA</aff><aff id="A6"><label>6</label>Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA</aff><aff id="A7"><label>7</label>U.S. Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA</aff><aff id="A8"><label>8</label>Department of Ophthalmology, Howe Laboratory, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA</aff><aff id="A9"><label>9</label>Department of Oral Diagnosis and Radiology, College of Dentistry, University of Oklahoma Health Sciences Center, Oklahoma City, USA</aff><aff id="A10"><label>10</label>Dean McGee Eye Institute and Department of Ophthalmology, University of Oklahoma College of Medicine, Oklahoma City, OK, USA</aff><aff id="A11"><label>11</label>Department of Clinical Laboratory Sciences, University of Texas at El Paso, El Paso, TX 79968</aff><aff id="A12"><label>12</label>Department of Developmental and Surgical Sciences, University of Minnesota, Minneapolis, MN, USA</aff><aff id="A13"><label>13</label>Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen 5021, Norway</aff><aff id="A14"><label>14</label>Department of Rheumatology, Haukeland University Hospital, Bergen 5021, Norway</aff><aff id="A15"><label>15</label>Valley Bone & Joint Clinic, 3035 DeMers Avenue, Grand Forks, ND 58201, USA</aff><aff id="A16"><label>16</label>Strasbourg University, Strasbourg, France</aff><aff id="A17"><label>17</label>Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Bogota, Colombia</aff><aff id="A18"><label>18</label>Division of Genetics and Molecular Medicine and Division of Immunology, Infection and Inflammatory Disease, King’s College London, London</aff><aff id="A19"><label>19</label>Department of Oral Medicine, Carolinas Medical Center, Charlotte, NC 28232, USA</aff><aff id="A20"><label>20</label>Sjögren’s Syndrome Clinic, National Institute of Dental and Craniofacial Research, Molecular Physiology and Therapeutics Branch, National Institutes of Health, Bethesda, MD 20892, USA</aff><aff id="A21"><label>21</label>Department of Rheumatology, Université Paris-Sud, AP-HP, INSERM U1012, Le Kremlin-Bicêtre, France</aff><aff id="A22"><label>22</label>Department of Medicine, Mount Sinai Hospital and University of Toronto, Toronto, Ontario</aff><aff id="A23"><label>23</label>Hospital for Special Surgery, New York, USA</aff><aff id="A24"><label>24</label>NIHR Biomedical Research Unit, University of Birmingham, Birmingham, UK</aff><aff id="A25"><label>25</label>Lunenfeld Tanenbaum and Toronto General Research Institutes, Departments of Medicine, Immunology and Molecular Genetics, University of Toronto, Toronto Ontario</aff><aff id="A26"><label>26</label>Musculoskeletal Research Group, Institute of Cellular Medicine & NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom</aff><aff id="A27"><label>27</label>Section of Rheumatology, Department of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden</aff><aff id="A28"><label>28</label>Rheumatology, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden</aff><aff id="A29"><label>29</label>Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway</aff><aff id="A30"><label>30</label>Department of Diagnostic and Biological Sciences, School of Dentistry, University of Minnesota, Minneapolis, USA</aff><aff id="A31"><label>31</label>Rheumatology Department, The Queen Elizabeth Hospital, Woodville South, SA 5011, Australia</aff><aff id="A32"><label>32</label>Discipline of Medicine, University of Adelaide, Adelaide, SA 5000, Australia</aff><aff id="A33"><label>33</label>Department of Medicine, University of Minnesota Medical School, Minneapolis, MN, USA</aff><aff id="A34"><label>34</label>Rheumatology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden</aff><aff id="A35"><label>35</label>Clinic for Immunology and Rheumatology, Hannover Medical School, 30625 Hannover, Germany</aff><aff id="A36"><label>36</label>Rhumatologie, Responsable de l’Unité de Recherche Clinique Hôpitaux Universitaire Paris-Sud Université Paris-Sud, INSERM U1184 Head of Autoimmunity team, IMVA : Immunology of viral Infections and Autoimmune Diseases</aff><aff id="A37"><label>37</label>Sanatorio Parque, Rosario, Argentina</aff><aff id="A38"><label>38</label>Center Pfizer, University of Granada, Andalusian Government for Genomics and Oncological Research, PTS Granada, 18016, Spain</aff><aff id="A39"><label>39</label>Division of Clinical Immunology and Rheumatology, University of Alabama, Birmingham, AL</aff><aff id="A40"><label>40</label>Center for Public Health Genomics and Department of Biostatistical Sciences, Division of Public Health Sciences, Wake Forest University, Winston-Salem, NC</aff><aff id="A41"><label>41</label>Division of Rheumatology & Immunology, Medical University of South Carolina, Charleston, SC</aff><aff id="A42"><label>42</label>Ralph H. Johnson VA Medical Center, Charleston, SC</aff><aff id="A43"><label>43</label>Division of Rheumatology, Department of Medicine, UCLA School of Medicine</aff><aff id="A44"><label>44</label> Division of Rheumatology, Department of Medicine, University of Michigan College of Medicine, Ann Arbor, Michigan</aff><aff id="A45"><label>45</label>Division of Rheumatology, Hospital for Special Surgery and Weill Cornell Medical College, New York, NY</aff><aff id="A46"><label>46</label>Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA</aff><aff id="A47"><label>47</label>University of Chicago Pritzker School of Medicine, Chicago, IL</aff><aff id="A48"><label>48</label>Charles R. Bronfman Institute for personalized medicine, Mount Sinai Hospital, 1468 Madison Avenue, New York, NY 10029</aff><aff id="A49"><label>49</label>Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA</aff><author-notes><corresp id="CR1"><label>*</label><bold>Correspondence</bold>: R. Hal Scofield, MD, 825 NE 13<sup>th</sup> Street, MS24, Oklahoma City, OK 73104 USA, Phone: +1 405 271 7444, Fax: +1 405 271 4110, <email>hal-scofield@omrf.ouhsc.edu</email>, John B. Harley, MD, PhD, 3333 Burnet Ave, ML 15012,, Cincinnati, Ohio 45229, Phone: +1 513 803 3665, Fax: +1 513 803 4652, <email>John.Harley@cchmc.org</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>12</day><month>8</month><year>2016</year></pub-date><pub-date pub-type="ppub"><month>5</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>5</month><year>2017</year></pub-date><volume>68</volume><issue>5</issue><fpage>1290</fpage><lpage>1300</lpage><pmc-comment>elocation-id from pubmed: 10.1002/art.39560</pmc-comment>
<abstract><sec id="S1"><title>Objective</title><p id="P1">More than 80% of autoimmune disease is female dominant, but the mechanism for this female bias is poorly understood. We suspected an X chromosome dose effect and hypothesized that trisomy X (47,XXX , 1 in ~1,000 live female births) would be increased in female predominant diseases (e.g. systemic lupus erythematosus [SLE], primary Sjögren’s syndrome [SS], primary biliary cirrhosis [PBC] and rheumatoid arthritis [RA]) compared to diseases without female predominance (sarcoidosis) and controls.</p></sec><sec id="S2"><title>Methods</title><p id="P2">We identified 47,XXX subjects using aggregate data from single nucleotide polymorphism (SNP) arrays and confirmed, when possible, by fluorescent in situ hybridization (FISH) or quantitative polymerase chain reaction (q-PCR).</p></sec><sec id="S3"><title>Results</title><p id="P3">We found 47,XXX in seven of 2,826 SLE and three of 1,033 SS female patients, but only in two of the 7,074 female controls (p=0.003, OR=8.78, 95% CI: 1.67-86.79 and p=0.02, OR=10.29, 95% CI: 1.18-123.47; respectively). One 47,XXX subject was present for ~404 SLE women and ~344 SS women. 47,XXX was present in excess among SLE and SS subjects.</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">The estimated prevalence of SLE and SS in women with 47,XXX was respectively ~2.5 and ~2.9 times higher than in 46,XX women and ~25 and ~41 times higher than in 46,XY men. No statistically significant increase of 47,XXX was observed in other female-biased diseases (PBC or RA), supporting the idea of multiple pathways to sex bias in autoimmunity.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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