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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rare and common variants in extracellular matrix gene Fibrillin 2 (<italic>FBN2</italic>) are associated with macular degeneration</title><author><name sortKey="Ratnapriya, Rinki" sort="Ratnapriya, Rinki" uniqKey="Ratnapriya R" first="Rinki" last="Ratnapriya">Rinki Ratnapriya</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Zhan, Xiaowei" sort="Zhan, Xiaowei" uniqKey="Zhan X" first="Xiaowei" last="Zhan">Xiaowei Zhan</name><affiliation><nlm:aff id="af7"><addr-line>Center for Statistical Genetics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af8"><addr-line>Department of Biostatistics</addr-line> and,</nlm:aff></affiliation></author><author><name sortKey="Fariss, Robert N" sort="Fariss, Robert N" uniqKey="Fariss R" first="Robert N." last="Fariss">Robert N. Fariss</name><affiliation><nlm:aff id="af2"><addr-line>Biological Imaging Core</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Branham, Kari E" sort="Branham, Kari E" uniqKey="Branham K" first="Kari E." last="Branham">Kari E. Branham</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI 48109</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Zipprer, David" sort="Zipprer, David" uniqKey="Zipprer D" first="David" last="Zipprer">David Zipprer</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Chakarova, Christina F" sort="Chakarova, Christina F" uniqKey="Chakarova C" first="Christina F." last="Chakarova">Christina F. Chakarova</name><affiliation><nlm:aff id="af10"><addr-line>Department of Genetics</addr-line>,<institution>UCL-Institute of Ophthalmology</institution>,<addr-line>Bath Street, London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Sergeev, Yuri V" sort="Sergeev, Yuri V" uniqKey="Sergeev Y" first="Yuri V." last="Sergeev">Yuri V. Sergeev</name><affiliation><nlm:aff id="af3"><addr-line>Ophthalmic Genetics and Visual Function Branch</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Campos, Maria M" sort="Campos, Maria M" uniqKey="Campos M" first="Maria M." last="Campos">Maria M. Campos</name><affiliation><nlm:aff id="af2"><addr-line>Biological Imaging Core</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Othman, Mohammad" sort="Othman, Mohammad" uniqKey="Othman M" first="Mohammad" last="Othman">Mohammad Othman</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI 48109</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Friedman, James S" sort="Friedman, James S" uniqKey="Friedman J" first="James S." last="Friedman">James S. Friedman</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Maminishkis, Arvydas" sort="Maminishkis, Arvydas" uniqKey="Maminishkis A" first="Arvydas" last="Maminishkis">Arvydas Maminishkis</name><affiliation><nlm:aff id="af4"><addr-line>Section of Epithelial and Retinal Physiology and Disease</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Waseem, Naushin H" sort="Waseem, Naushin H" uniqKey="Waseem N" first="Naushin H." last="Waseem">Naushin H. Waseem</name><affiliation><nlm:aff id="af10"><addr-line>Department of Genetics</addr-line>,<institution>UCL-Institute of Ophthalmology</institution>,<addr-line>Bath Street, London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Brooks, Matthew" sort="Brooks, Matthew" uniqKey="Brooks M" first="Matthew" last="Brooks">Matthew Brooks</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Rajasimha, Harsha K" sort="Rajasimha, Harsha K" uniqKey="Rajasimha H" first="Harsha K." last="Rajasimha">Harsha K. Rajasimha</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Edwards, Albert O" sort="Edwards, Albert O" uniqKey="Edwards A" first="Albert O." last="Edwards">Albert O. Edwards</name><affiliation><nlm:aff id="af11"><addr-line>Institute for Molecular Biology</addr-line>,<institution>University of Oregon and Oregon Retina</institution>,<addr-line>Eugene, OR 97401</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Lotery, Andrew" sort="Lotery, Andrew" uniqKey="Lotery A" first="Andrew" last="Lotery">Andrew Lotery</name><affiliation><nlm:aff id="af12"><addr-line>Faculty of Medicine, Clinical and Experimental Sciences</addr-line>,<institution>University of Southampton</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Klein, Barbara E" sort="Klein, Barbara E" uniqKey="Klein B" first="Barbara E." last="Klein">Barbara E. Klein</name><affiliation><nlm:aff id="af13"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Wisconsin School of Medicine and, Public Health</institution>,<addr-line>Madison, WI 53726</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Truitt, Barbara J" sort="Truitt, Barbara J" uniqKey="Truitt B" first="Barbara J." last="Truitt">Barbara J. Truitt</name><affiliation><nlm:aff id="af14"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH 44106</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Li, Bingshan" sort="Li, Bingshan" uniqKey="Li B" first="Bingshan" last="Li">Bingshan Li</name><affiliation><nlm:aff id="af15"><addr-line>Center for Human Genetics Research</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN 37232</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Schaumberg, Debra A" sort="Schaumberg, Debra A" uniqKey="Schaumberg D" first="Debra A." last="Schaumberg">Debra A. Schaumberg</name><affiliation><nlm:aff id="af16"><addr-line>Division of Preventive Medicine</addr-line>,<institution>Brigham and Women’s Hospital</institution>,<addr-line>Boston, MA 02215</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af17"><addr-line>Department of Ophthalmology and Visual Sciences, Moran Eye Center</addr-line>,<institution>University of Utah</institution>,<addr-line>Salt Lake City, UT 84132</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Morgan, Denise J" sort="Morgan, Denise J" uniqKey="Morgan D" first="Denise J." last="Morgan">Denise J. Morgan</name><affiliation><nlm:aff id="af17"><addr-line>Department of Ophthalmology and Visual Sciences, Moran Eye Center</addr-line>,<institution>University of Utah</institution>,<addr-line>Salt Lake City, UT 84132</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Morrison, Margaux A" sort="Morrison, Margaux A" uniqKey="Morrison M" first="Margaux A." last="Morrison">Margaux A. Morrison</name><affiliation><nlm:aff id="af17"><addr-line>Department of Ophthalmology and Visual Sciences, Moran Eye Center</addr-line>,<institution>University of Utah</institution>,<addr-line>Salt Lake City, UT 84132</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Souied, Eric" sort="Souied, Eric" uniqKey="Souied E" first="Eric" last="Souied">Eric Souied</name><affiliation><nlm:aff id="af18"><addr-line>Hôpital Intercommunal de Créteil,</addr-line><institution>Hôpital Henri Mondor – Université Paris Est Créteil</institution><addr-line>94000</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Tsironi, Evangelia E" sort="Tsironi, Evangelia E" uniqKey="Tsironi E" first="Evangelia E." last="Tsironi">Evangelia E. Tsironi</name><affiliation><nlm:aff id="af19"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Thessaly School of Medicine</institution>,<addr-line>Larissa</addr-line>,<country>Greece</country>,</nlm:aff></affiliation></author><author><name sortKey="Grassmann, Felix" sort="Grassmann, Felix" uniqKey="Grassmann F" first="Felix" last="Grassmann">Felix Grassmann</name><affiliation><nlm:aff id="af20"><institution>Institute of Human Genetics, University of Regensburg</institution>,<addr-line>Regensburg 93053</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Fishman, Gerald A" sort="Fishman, Gerald A" uniqKey="Fishman G" first="Gerald A." last="Fishman">Gerald A. Fishman</name><affiliation><nlm:aff id="af21"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Illinois at Chicago</institution>,<addr-line>Chicago</addr-line>,<addr-line>IL 60607</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Silvestri, Giuliana" sort="Silvestri, Giuliana" uniqKey="Silvestri G" first="Giuliana" last="Silvestri">Giuliana Silvestri</name><affiliation><nlm:aff id="af22"><addr-line>Centre for Vision and Vascular Science</addr-line>,<institution>Queen’s University</institution>,<addr-line>Belfast</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Scholl, Hendrik P N" sort="Scholl, Hendrik P N" uniqKey="Scholl H" first="Hendrik P. N." last="Scholl">Hendrik P. N. Scholl</name><affiliation><nlm:aff id="af23"><institution>Wilmer Eye Institute, Johns Hopkins University</institution>,<addr-line>600 N. Wolfe Street, Baltimore, MD 21287</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Kim, Ivana K" sort="Kim, Ivana K" uniqKey="Kim I" first="Ivana K." last="Kim">Ivana K. Kim</name><affiliation><nlm:aff id="af24"><addr-line>Retina Service and Ophthalmology</addr-line>,<institution>Harvard Medical School, Massachusetts Eye and Ear Infirmary</institution>,<addr-line>Boston, MA 02114</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Ramke, Jacqueline" sort="Ramke, Jacqueline" uniqKey="Ramke J" first="Jacqueline" last="Ramke">Jacqueline Ramke</name><affiliation><nlm:aff id="af25"><institution>The Fred Hollows Foundation</institution>,<addr-line>Auckland</addr-line>,<country>New Zealand</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af26"><addr-line>School of Social Sciences</addr-line>,<institution>University of New South Wales</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Tuo, Jingsheng" sort="Tuo, Jingsheng" uniqKey="Tuo J" first="Jingsheng" last="Tuo">Jingsheng Tuo</name><affiliation><nlm:aff wicri:cut=" and" id="af5"><addr-line>Section of Immunopathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Merriam, Joanna E" sort="Merriam, Joanna E" uniqKey="Merriam J" first="Joanna E." last="Merriam">Joanna E. Merriam</name><affiliation><nlm:aff wicri:cut=" and" id="af27"><addr-line>Department of Ophthalmology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Merriam, John C" sort="Merriam, John C" uniqKey="Merriam J" first="John C." last="Merriam">John C. Merriam</name><affiliation><nlm:aff wicri:cut=" and" id="af27"><addr-line>Department of Ophthalmology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Park, Kyu Hyung" sort="Park, Kyu Hyung" uniqKey="Park K" first="Kyu Hyung" last="Park">Kyu Hyung Park</name><affiliation><nlm:aff id="af29"><addr-line>Department of Ophthalmology</addr-line>,<institution>Seoul National University Bundang Hospital</institution>,<addr-line>Seoul 463-707</addr-line>,<country>Republic of Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Olson, Lana M" sort="Olson, Lana M" uniqKey="Olson L" first="Lana M." last="Olson">Lana M. Olson</name><affiliation><nlm:aff id="af15"><addr-line>Center for Human Genetics Research</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN 37232</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Farrer, Lindsay A" sort="Farrer, Lindsay A" uniqKey="Farrer L" first="Lindsay A." last="Farrer">Lindsay A. Farrer</name><affiliation><nlm:aff id="af30"><addr-line>Departments of Medicine (Section of Biomedical Genetics), Ophthalmology and Biostatistics, Neurology, Epidemiology</addr-line>,<institution>Boston University Schools of Medicine and Public Health</institution>,<addr-line>Boston, MA 02215</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Johnson, Matthew P" sort="Johnson, Matthew P" uniqKey="Johnson M" first="Matthew P." last="Johnson">Matthew P. Johnson</name><affiliation><nlm:aff id="af31"><institution>Texas Biomedical Research Institute</institution>,<addr-line>San Antonio, TX 78245</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Peachey, Neal S" sort="Peachey, Neal S" uniqKey="Peachey N" first="Neal S." last="Peachey">Neal S. Peachey</name><affiliation><nlm:aff id="af32"><institution>Cleveland Clinic Foundation, Cole Eye Institute</institution>,<addr-line>Cleveland, OH 44195</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af33"><institution>Louis Stokes Cleveland VA Medical Center</institution>,<addr-line>Cleveland, OH 44195</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation><nlm:aff id="af34"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision – Inserm Université Pierre et Marie Curie UMR-S 968</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Baron, Robert V" sort="Baron, Robert V" uniqKey="Baron R" first="Robert V." last="Baron">Robert V. Baron</name><affiliation><nlm:aff wicri:cut=" and" id="af35"><addr-line>Department of Human Genetics</addr-line></nlm:aff></affiliation></author><author><name sortKey="Igo, Robert P" sort="Igo, Robert P" uniqKey="Igo R" first="Robert P." last="Igo">Robert P. Igo</name><affiliation><nlm:aff id="af14"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH 44106</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Klein, Ronald" sort="Klein, Ronald" uniqKey="Klein R" first="Ronald" last="Klein">Ronald Klein</name><affiliation><nlm:aff id="af13"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Wisconsin School of Medicine and, Public Health</institution>,<addr-line>Madison, WI 53726</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Hagstrom, Stephanie A" sort="Hagstrom, Stephanie A" uniqKey="Hagstrom S" first="Stephanie A." last="Hagstrom">Stephanie A. Hagstrom</name><affiliation><nlm:aff id="af32"><institution>Cleveland Clinic Foundation, Cole Eye Institute</institution>,<addr-line>Cleveland, OH 44195</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Kamatani, Yoichiro" sort="Kamatani, Yoichiro" uniqKey="Kamatani Y" first="Yoichiro" last="Kamatani">Yoichiro Kamatani</name><affiliation><nlm:aff id="af34"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision – Inserm Université Pierre et Marie Curie UMR-S 968</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Martin, Tammy M" sort="Martin, Tammy M" uniqKey="Martin T" first="Tammy M." last="Martin">Tammy M. Martin</name><affiliation><nlm:aff id="af37"><institution>Oregon Health & Science University</institution>,<addr-line>Portland, OR 97239</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Jiang, Yingda" sort="Jiang, Yingda" uniqKey="Jiang Y" first="Yingda" last="Jiang">Yingda Jiang</name><affiliation><nlm:aff id="af36"><addr-line>Department of Biostatistics, Graduate School of Public Health</addr-line>,<institution>University of Pittsburgh</institution>,<addr-line>Pittsburgh, PA 15261</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Conley, Yvette" sort="Conley, Yvette" uniqKey="Conley Y" first="Yvette" last="Conley">Yvette Conley</name><affiliation><nlm:aff id="af38"><addr-line>Health Promotion and Development</addr-line>,<institution>School of Nursing</institution>,<addr-line>440 Victoria Building, 3500 Victoria St, Pittsburgh, PA 15261</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Sahel, Jose Alan" sort="Sahel, Jose Alan" uniqKey="Sahel J" first="Jose-Alan" last="Sahel">Jose-Alan Sahel</name><affiliation><nlm:aff id="af34"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision – Inserm Université Pierre et Marie Curie UMR-S 968</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Zack, Donald J" sort="Zack, Donald J" uniqKey="Zack D" first="Donald J." last="Zack">Donald J. Zack</name><affiliation><nlm:aff id="af23"><institution>Wilmer Eye Institute, Johns Hopkins University</institution>,<addr-line>600 N. Wolfe Street, Baltimore, MD 21287</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Chan, Chi Chao" sort="Chan, Chi Chao" uniqKey="Chan C" first="Chi-Chao" last="Chan">Chi-Chao Chan</name><affiliation><nlm:aff wicri:cut=" and" id="af5"><addr-line>Section of Immunopathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pericak Vance, Margaret A" sort="Pericak Vance, Margaret A" uniqKey="Pericak Vance M" first="Margaret A." last="Pericak-Vance">Margaret A. Pericak-Vance</name><affiliation><nlm:aff id="af39"><addr-line>Bascom Palmer Eye Institute and Human Genomics</addr-line>,<institution>University of Miami Miller School of Medicine</institution>,<addr-line>Miami, FL 33125</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Jacobson, Samuel G" sort="Jacobson, Samuel G" uniqKey="Jacobson S" first="Samuel G." last="Jacobson">Samuel G. Jacobson</name><affiliation><nlm:aff id="af40"><addr-line>Department of Ophthalmology</addr-line>,<institution>Scheie Eye Institute, University of Pennsylvania</institution>,<addr-line>Philadelphia, PA 19104</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Gorin, Michael B" sort="Gorin, Michael B" uniqKey="Gorin M" first="Michael B." last="Gorin">Michael B. Gorin</name><affiliation><nlm:aff id="af41"><addr-line>Department of Ophthalmology, David Geffen School of Medicine</addr-line>,<institution>University of California Los Angeles</institution>,<addr-line>Los Angeles, CA 90095</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Klein, Michael L" sort="Klein, Michael L" uniqKey="Klein M" first="Michael L." last="Klein">Michael L. Klein</name><affiliation><nlm:aff id="af42"><addr-line>Macular Degeneration Center</addr-line>,<institution>Casey Eye Institute, Oregon Health and Science, University</institution>,<addr-line>Portland, OR 97201</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Allikmets, Rando" sort="Allikmets, Rando" uniqKey="Allikmets R" first="Rando" last="Allikmets">Rando Allikmets</name><affiliation><nlm:aff wicri:cut=" and" id="af27"><addr-line>Department of Ophthalmology</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af28"><addr-line>Department of Pathology and Cell Biology</addr-line>,<institution>Columbia University</institution>,<addr-line>New York, NY 10032</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Iyengar, Sudha K" sort="Iyengar, Sudha K" uniqKey="Iyengar S" first="Sudha K." last="Iyengar">Sudha K. Iyengar</name><affiliation><nlm:aff id="af14"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH 44106</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Weber, Bernhard H" sort="Weber, Bernhard H" uniqKey="Weber B" first="Bernhard H." last="Weber">Bernhard H. Weber</name><affiliation><nlm:aff id="af20"><institution>Institute of Human Genetics, University of Regensburg</institution>,<addr-line>Regensburg 93053</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name><affiliation><nlm:aff id="af15"><addr-line>Center for Human Genetics Research</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN 37232</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Leveillard, Thierry" sort="Leveillard, Thierry" uniqKey="Leveillard T" first="Thierry" last="Léveillard">Thierry Léveillard</name><affiliation><nlm:aff id="af34"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision – Inserm Université Pierre et Marie Curie UMR-S 968</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Deangelis, Margaret M" sort="Deangelis, Margaret M" uniqKey="Deangelis M" first="Margaret M." last="Deangelis">Margaret M. Deangelis</name><affiliation><nlm:aff id="af17"><addr-line>Department of Ophthalmology and Visual Sciences, Moran Eye Center</addr-line>,<institution>University of Utah</institution>,<addr-line>Salt Lake City, UT 84132</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Stambolian, Dwight" sort="Stambolian, Dwight" uniqKey="Stambolian D" first="Dwight" last="Stambolian">Dwight Stambolian</name><affiliation><nlm:aff wicri:cut=" and" id="af43"><addr-line>Department of Ophthalmology,</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af44"><addr-line>Department of Genetics</addr-line>,<institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA 9104</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Weeks, Daniel E" sort="Weeks, Daniel E" uniqKey="Weeks D" first="Daniel E." last="Weeks">Daniel E. Weeks</name><affiliation><nlm:aff wicri:cut=" and" id="af35"><addr-line>Department of Human Genetics</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af36"><addr-line>Department of Biostatistics, Graduate School of Public Health</addr-line>,<institution>University of Pittsburgh</institution>,<addr-line>Pittsburgh, PA 15261</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Bhattacharya, Shomi S" sort="Bhattacharya, Shomi S" uniqKey="Bhattacharya S" first="Shomi S." last="Bhattacharya">Shomi S. Bhattacharya</name><affiliation><nlm:aff id="af10"><addr-line>Department of Genetics</addr-line>,<institution>UCL-Institute of Ophthalmology</institution>,<addr-line>Bath Street, London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Chew, Emily Y" sort="Chew, Emily Y" uniqKey="Chew E" first="Emily Y." last="Chew">Emily Y. Chew</name><affiliation><nlm:aff id="af6"><addr-line>Clinical Trials Branch, Division of Epidemiology and Clinical Applications</addr-line>,<institution>National Eye Institute, National Institutes of Health</institution>,<addr-line>Bethesda, MD 20892</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Heckenlively, John R" sort="Heckenlively, John R" uniqKey="Heckenlively J" first="John R." last="Heckenlively">John R. Heckenlively</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI 48109</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Abecasis, Goncalo R" sort="Abecasis, Goncalo R" uniqKey="Abecasis G" first="Gonçalo R." last="Abecasis">Gonçalo R. Abecasis</name><affiliation><nlm:aff id="af7"><addr-line>Center for Statistical Genetics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af8"><addr-line>Department of Biostatistics</addr-line> and,</nlm:aff></affiliation></author><author><name sortKey="Swaroop, Anand" sort="Swaroop, Anand" uniqKey="Swaroop A" first="Anand" last="Swaroop">Anand Swaroop</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24899048</idno><idno type="pmc">4189898</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189898</idno><idno type="RBID">PMC:4189898</idno><idno type="doi">10.1093/hmg/ddu276</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001872</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001872</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Rare and common variants in extracellular matrix gene Fibrillin 2 (<italic>FBN2</italic>) are associated with macular degeneration</title><author><name sortKey="Ratnapriya, Rinki" sort="Ratnapriya, Rinki" uniqKey="Ratnapriya R" first="Rinki" last="Ratnapriya">Rinki Ratnapriya</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Zhan, Xiaowei" sort="Zhan, Xiaowei" uniqKey="Zhan X" first="Xiaowei" last="Zhan">Xiaowei Zhan</name><affiliation><nlm:aff id="af7"><addr-line>Center for Statistical Genetics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af8"><addr-line>Department of Biostatistics</addr-line> and,</nlm:aff></affiliation></author><author><name sortKey="Fariss, Robert N" sort="Fariss, Robert N" uniqKey="Fariss R" first="Robert N." last="Fariss">Robert N. Fariss</name><affiliation><nlm:aff id="af2"><addr-line>Biological Imaging Core</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Branham, Kari E" sort="Branham, Kari E" uniqKey="Branham K" first="Kari E." last="Branham">Kari E. Branham</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI 48109</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Zipprer, David" sort="Zipprer, David" uniqKey="Zipprer D" first="David" last="Zipprer">David Zipprer</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Chakarova, Christina F" sort="Chakarova, Christina F" uniqKey="Chakarova C" first="Christina F." last="Chakarova">Christina F. Chakarova</name><affiliation><nlm:aff id="af10"><addr-line>Department of Genetics</addr-line>,<institution>UCL-Institute of Ophthalmology</institution>,<addr-line>Bath Street, London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Sergeev, Yuri V" sort="Sergeev, Yuri V" uniqKey="Sergeev Y" first="Yuri V." last="Sergeev">Yuri V. Sergeev</name><affiliation><nlm:aff id="af3"><addr-line>Ophthalmic Genetics and Visual Function Branch</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Campos, Maria M" sort="Campos, Maria M" uniqKey="Campos M" first="Maria M." last="Campos">Maria M. Campos</name><affiliation><nlm:aff id="af2"><addr-line>Biological Imaging Core</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Othman, Mohammad" sort="Othman, Mohammad" uniqKey="Othman M" first="Mohammad" last="Othman">Mohammad Othman</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI 48109</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Friedman, James S" sort="Friedman, James S" uniqKey="Friedman J" first="James S." last="Friedman">James S. Friedman</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Maminishkis, Arvydas" sort="Maminishkis, Arvydas" uniqKey="Maminishkis A" first="Arvydas" last="Maminishkis">Arvydas Maminishkis</name><affiliation><nlm:aff id="af4"><addr-line>Section of Epithelial and Retinal Physiology and Disease</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Waseem, Naushin H" sort="Waseem, Naushin H" uniqKey="Waseem N" first="Naushin H." last="Waseem">Naushin H. Waseem</name><affiliation><nlm:aff id="af10"><addr-line>Department of Genetics</addr-line>,<institution>UCL-Institute of Ophthalmology</institution>,<addr-line>Bath Street, London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Brooks, Matthew" sort="Brooks, Matthew" uniqKey="Brooks M" first="Matthew" last="Brooks">Matthew Brooks</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Rajasimha, Harsha K" sort="Rajasimha, Harsha K" uniqKey="Rajasimha H" first="Harsha K." last="Rajasimha">Harsha K. Rajasimha</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Edwards, Albert O" sort="Edwards, Albert O" uniqKey="Edwards A" first="Albert O." last="Edwards">Albert O. Edwards</name><affiliation><nlm:aff id="af11"><addr-line>Institute for Molecular Biology</addr-line>,<institution>University of Oregon and Oregon Retina</institution>,<addr-line>Eugene, OR 97401</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Lotery, Andrew" sort="Lotery, Andrew" uniqKey="Lotery A" first="Andrew" last="Lotery">Andrew Lotery</name><affiliation><nlm:aff id="af12"><addr-line>Faculty of Medicine, Clinical and Experimental Sciences</addr-line>,<institution>University of Southampton</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Klein, Barbara E" sort="Klein, Barbara E" uniqKey="Klein B" first="Barbara E." last="Klein">Barbara E. Klein</name><affiliation><nlm:aff id="af13"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Wisconsin School of Medicine and, Public Health</institution>,<addr-line>Madison, WI 53726</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Truitt, Barbara J" sort="Truitt, Barbara J" uniqKey="Truitt B" first="Barbara J." last="Truitt">Barbara J. Truitt</name><affiliation><nlm:aff id="af14"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH 44106</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Li, Bingshan" sort="Li, Bingshan" uniqKey="Li B" first="Bingshan" last="Li">Bingshan Li</name><affiliation><nlm:aff id="af15"><addr-line>Center for Human Genetics Research</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN 37232</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Schaumberg, Debra A" sort="Schaumberg, Debra A" uniqKey="Schaumberg D" first="Debra A." last="Schaumberg">Debra A. Schaumberg</name><affiliation><nlm:aff id="af16"><addr-line>Division of Preventive Medicine</addr-line>,<institution>Brigham and Women’s Hospital</institution>,<addr-line>Boston, MA 02215</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af17"><addr-line>Department of Ophthalmology and Visual Sciences, Moran Eye Center</addr-line>,<institution>University of Utah</institution>,<addr-line>Salt Lake City, UT 84132</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Morgan, Denise J" sort="Morgan, Denise J" uniqKey="Morgan D" first="Denise J." last="Morgan">Denise J. Morgan</name><affiliation><nlm:aff id="af17"><addr-line>Department of Ophthalmology and Visual Sciences, Moran Eye Center</addr-line>,<institution>University of Utah</institution>,<addr-line>Salt Lake City, UT 84132</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Morrison, Margaux A" sort="Morrison, Margaux A" uniqKey="Morrison M" first="Margaux A." last="Morrison">Margaux A. Morrison</name><affiliation><nlm:aff id="af17"><addr-line>Department of Ophthalmology and Visual Sciences, Moran Eye Center</addr-line>,<institution>University of Utah</institution>,<addr-line>Salt Lake City, UT 84132</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Souied, Eric" sort="Souied, Eric" uniqKey="Souied E" first="Eric" last="Souied">Eric Souied</name><affiliation><nlm:aff id="af18"><addr-line>Hôpital Intercommunal de Créteil,</addr-line><institution>Hôpital Henri Mondor – Université Paris Est Créteil</institution><addr-line>94000</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Tsironi, Evangelia E" sort="Tsironi, Evangelia E" uniqKey="Tsironi E" first="Evangelia E." last="Tsironi">Evangelia E. Tsironi</name><affiliation><nlm:aff id="af19"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Thessaly School of Medicine</institution>,<addr-line>Larissa</addr-line>,<country>Greece</country>,</nlm:aff></affiliation></author><author><name sortKey="Grassmann, Felix" sort="Grassmann, Felix" uniqKey="Grassmann F" first="Felix" last="Grassmann">Felix Grassmann</name><affiliation><nlm:aff id="af20"><institution>Institute of Human Genetics, University of Regensburg</institution>,<addr-line>Regensburg 93053</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Fishman, Gerald A" sort="Fishman, Gerald A" uniqKey="Fishman G" first="Gerald A." last="Fishman">Gerald A. Fishman</name><affiliation><nlm:aff id="af21"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Illinois at Chicago</institution>,<addr-line>Chicago</addr-line>,<addr-line>IL 60607</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Silvestri, Giuliana" sort="Silvestri, Giuliana" uniqKey="Silvestri G" first="Giuliana" last="Silvestri">Giuliana Silvestri</name><affiliation><nlm:aff id="af22"><addr-line>Centre for Vision and Vascular Science</addr-line>,<institution>Queen’s University</institution>,<addr-line>Belfast</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Scholl, Hendrik P N" sort="Scholl, Hendrik P N" uniqKey="Scholl H" first="Hendrik P. N." last="Scholl">Hendrik P. N. Scholl</name><affiliation><nlm:aff id="af23"><institution>Wilmer Eye Institute, Johns Hopkins University</institution>,<addr-line>600 N. Wolfe Street, Baltimore, MD 21287</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Kim, Ivana K" sort="Kim, Ivana K" uniqKey="Kim I" first="Ivana K." last="Kim">Ivana K. Kim</name><affiliation><nlm:aff id="af24"><addr-line>Retina Service and Ophthalmology</addr-line>,<institution>Harvard Medical School, Massachusetts Eye and Ear Infirmary</institution>,<addr-line>Boston, MA 02114</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Ramke, Jacqueline" sort="Ramke, Jacqueline" uniqKey="Ramke J" first="Jacqueline" last="Ramke">Jacqueline Ramke</name><affiliation><nlm:aff id="af25"><institution>The Fred Hollows Foundation</institution>,<addr-line>Auckland</addr-line>,<country>New Zealand</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af26"><addr-line>School of Social Sciences</addr-line>,<institution>University of New South Wales</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Tuo, Jingsheng" sort="Tuo, Jingsheng" uniqKey="Tuo J" first="Jingsheng" last="Tuo">Jingsheng Tuo</name><affiliation><nlm:aff wicri:cut=" and" id="af5"><addr-line>Section of Immunopathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Merriam, Joanna E" sort="Merriam, Joanna E" uniqKey="Merriam J" first="Joanna E." last="Merriam">Joanna E. Merriam</name><affiliation><nlm:aff wicri:cut=" and" id="af27"><addr-line>Department of Ophthalmology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Merriam, John C" sort="Merriam, John C" uniqKey="Merriam J" first="John C." last="Merriam">John C. Merriam</name><affiliation><nlm:aff wicri:cut=" and" id="af27"><addr-line>Department of Ophthalmology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Park, Kyu Hyung" sort="Park, Kyu Hyung" uniqKey="Park K" first="Kyu Hyung" last="Park">Kyu Hyung Park</name><affiliation><nlm:aff id="af29"><addr-line>Department of Ophthalmology</addr-line>,<institution>Seoul National University Bundang Hospital</institution>,<addr-line>Seoul 463-707</addr-line>,<country>Republic of Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Olson, Lana M" sort="Olson, Lana M" uniqKey="Olson L" first="Lana M." last="Olson">Lana M. Olson</name><affiliation><nlm:aff id="af15"><addr-line>Center for Human Genetics Research</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN 37232</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Farrer, Lindsay A" sort="Farrer, Lindsay A" uniqKey="Farrer L" first="Lindsay A." last="Farrer">Lindsay A. Farrer</name><affiliation><nlm:aff id="af30"><addr-line>Departments of Medicine (Section of Biomedical Genetics), Ophthalmology and Biostatistics, Neurology, Epidemiology</addr-line>,<institution>Boston University Schools of Medicine and Public Health</institution>,<addr-line>Boston, MA 02215</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Johnson, Matthew P" sort="Johnson, Matthew P" uniqKey="Johnson M" first="Matthew P." last="Johnson">Matthew P. Johnson</name><affiliation><nlm:aff id="af31"><institution>Texas Biomedical Research Institute</institution>,<addr-line>San Antonio, TX 78245</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Peachey, Neal S" sort="Peachey, Neal S" uniqKey="Peachey N" first="Neal S." last="Peachey">Neal S. Peachey</name><affiliation><nlm:aff id="af32"><institution>Cleveland Clinic Foundation, Cole Eye Institute</institution>,<addr-line>Cleveland, OH 44195</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af33"><institution>Louis Stokes Cleveland VA Medical Center</institution>,<addr-line>Cleveland, OH 44195</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation><nlm:aff id="af34"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision – Inserm Université Pierre et Marie Curie UMR-S 968</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Baron, Robert V" sort="Baron, Robert V" uniqKey="Baron R" first="Robert V." last="Baron">Robert V. Baron</name><affiliation><nlm:aff wicri:cut=" and" id="af35"><addr-line>Department of Human Genetics</addr-line></nlm:aff></affiliation></author><author><name sortKey="Igo, Robert P" sort="Igo, Robert P" uniqKey="Igo R" first="Robert P." last="Igo">Robert P. Igo</name><affiliation><nlm:aff id="af14"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH 44106</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Klein, Ronald" sort="Klein, Ronald" uniqKey="Klein R" first="Ronald" last="Klein">Ronald Klein</name><affiliation><nlm:aff id="af13"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Wisconsin School of Medicine and, Public Health</institution>,<addr-line>Madison, WI 53726</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Hagstrom, Stephanie A" sort="Hagstrom, Stephanie A" uniqKey="Hagstrom S" first="Stephanie A." last="Hagstrom">Stephanie A. Hagstrom</name><affiliation><nlm:aff id="af32"><institution>Cleveland Clinic Foundation, Cole Eye Institute</institution>,<addr-line>Cleveland, OH 44195</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Kamatani, Yoichiro" sort="Kamatani, Yoichiro" uniqKey="Kamatani Y" first="Yoichiro" last="Kamatani">Yoichiro Kamatani</name><affiliation><nlm:aff id="af34"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision – Inserm Université Pierre et Marie Curie UMR-S 968</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Martin, Tammy M" sort="Martin, Tammy M" uniqKey="Martin T" first="Tammy M." last="Martin">Tammy M. Martin</name><affiliation><nlm:aff id="af37"><institution>Oregon Health & Science University</institution>,<addr-line>Portland, OR 97239</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Jiang, Yingda" sort="Jiang, Yingda" uniqKey="Jiang Y" first="Yingda" last="Jiang">Yingda Jiang</name><affiliation><nlm:aff id="af36"><addr-line>Department of Biostatistics, Graduate School of Public Health</addr-line>,<institution>University of Pittsburgh</institution>,<addr-line>Pittsburgh, PA 15261</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Conley, Yvette" sort="Conley, Yvette" uniqKey="Conley Y" first="Yvette" last="Conley">Yvette Conley</name><affiliation><nlm:aff id="af38"><addr-line>Health Promotion and Development</addr-line>,<institution>School of Nursing</institution>,<addr-line>440 Victoria Building, 3500 Victoria St, Pittsburgh, PA 15261</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Sahel, Jose Alan" sort="Sahel, Jose Alan" uniqKey="Sahel J" first="Jose-Alan" last="Sahel">Jose-Alan Sahel</name><affiliation><nlm:aff id="af34"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision – Inserm Université Pierre et Marie Curie UMR-S 968</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Zack, Donald J" sort="Zack, Donald J" uniqKey="Zack D" first="Donald J." last="Zack">Donald J. Zack</name><affiliation><nlm:aff id="af23"><institution>Wilmer Eye Institute, Johns Hopkins University</institution>,<addr-line>600 N. Wolfe Street, Baltimore, MD 21287</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Chan, Chi Chao" sort="Chan, Chi Chao" uniqKey="Chan C" first="Chi-Chao" last="Chan">Chi-Chao Chan</name><affiliation><nlm:aff wicri:cut=" and" id="af5"><addr-line>Section of Immunopathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Pericak Vance, Margaret A" sort="Pericak Vance, Margaret A" uniqKey="Pericak Vance M" first="Margaret A." last="Pericak-Vance">Margaret A. Pericak-Vance</name><affiliation><nlm:aff id="af39"><addr-line>Bascom Palmer Eye Institute and Human Genomics</addr-line>,<institution>University of Miami Miller School of Medicine</institution>,<addr-line>Miami, FL 33125</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Jacobson, Samuel G" sort="Jacobson, Samuel G" uniqKey="Jacobson S" first="Samuel G." last="Jacobson">Samuel G. Jacobson</name><affiliation><nlm:aff id="af40"><addr-line>Department of Ophthalmology</addr-line>,<institution>Scheie Eye Institute, University of Pennsylvania</institution>,<addr-line>Philadelphia, PA 19104</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Gorin, Michael B" sort="Gorin, Michael B" uniqKey="Gorin M" first="Michael B." last="Gorin">Michael B. Gorin</name><affiliation><nlm:aff id="af41"><addr-line>Department of Ophthalmology, David Geffen School of Medicine</addr-line>,<institution>University of California Los Angeles</institution>,<addr-line>Los Angeles, CA 90095</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Klein, Michael L" sort="Klein, Michael L" uniqKey="Klein M" first="Michael L." last="Klein">Michael L. Klein</name><affiliation><nlm:aff id="af42"><addr-line>Macular Degeneration Center</addr-line>,<institution>Casey Eye Institute, Oregon Health and Science, University</institution>,<addr-line>Portland, OR 97201</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Allikmets, Rando" sort="Allikmets, Rando" uniqKey="Allikmets R" first="Rando" last="Allikmets">Rando Allikmets</name><affiliation><nlm:aff wicri:cut=" and" id="af27"><addr-line>Department of Ophthalmology</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af28"><addr-line>Department of Pathology and Cell Biology</addr-line>,<institution>Columbia University</institution>,<addr-line>New York, NY 10032</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Iyengar, Sudha K" sort="Iyengar, Sudha K" uniqKey="Iyengar S" first="Sudha K." last="Iyengar">Sudha K. Iyengar</name><affiliation><nlm:aff id="af14"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH 44106</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Weber, Bernhard H" sort="Weber, Bernhard H" uniqKey="Weber B" first="Bernhard H." last="Weber">Bernhard H. Weber</name><affiliation><nlm:aff id="af20"><institution>Institute of Human Genetics, University of Regensburg</institution>,<addr-line>Regensburg 93053</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name><affiliation><nlm:aff id="af15"><addr-line>Center for Human Genetics Research</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN 37232</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Leveillard, Thierry" sort="Leveillard, Thierry" uniqKey="Leveillard T" first="Thierry" last="Léveillard">Thierry Léveillard</name><affiliation><nlm:aff id="af34"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision – Inserm Université Pierre et Marie Curie UMR-S 968</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Deangelis, Margaret M" sort="Deangelis, Margaret M" uniqKey="Deangelis M" first="Margaret M." last="Deangelis">Margaret M. Deangelis</name><affiliation><nlm:aff id="af17"><addr-line>Department of Ophthalmology and Visual Sciences, Moran Eye Center</addr-line>,<institution>University of Utah</institution>,<addr-line>Salt Lake City, UT 84132</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Stambolian, Dwight" sort="Stambolian, Dwight" uniqKey="Stambolian D" first="Dwight" last="Stambolian">Dwight Stambolian</name><affiliation><nlm:aff wicri:cut=" and" id="af43"><addr-line>Department of Ophthalmology,</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af44"><addr-line>Department of Genetics</addr-line>,<institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA 9104</addr-line>,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Weeks, Daniel E" sort="Weeks, Daniel E" uniqKey="Weeks D" first="Daniel E." last="Weeks">Daniel E. Weeks</name><affiliation><nlm:aff wicri:cut=" and" id="af35"><addr-line>Department of Human Genetics</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af36"><addr-line>Department of Biostatistics, Graduate School of Public Health</addr-line>,<institution>University of Pittsburgh</institution>,<addr-line>Pittsburgh, PA 15261</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Bhattacharya, Shomi S" sort="Bhattacharya, Shomi S" uniqKey="Bhattacharya S" first="Shomi S." last="Bhattacharya">Shomi S. Bhattacharya</name><affiliation><nlm:aff id="af10"><addr-line>Department of Genetics</addr-line>,<institution>UCL-Institute of Ophthalmology</institution>,<addr-line>Bath Street, London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Chew, Emily Y" sort="Chew, Emily Y" uniqKey="Chew E" first="Emily Y." last="Chew">Emily Y. Chew</name><affiliation><nlm:aff id="af6"><addr-line>Clinical Trials Branch, Division of Epidemiology and Clinical Applications</addr-line>,<institution>National Eye Institute, National Institutes of Health</institution>,<addr-line>Bethesda, MD 20892</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Heckenlively, John R" sort="Heckenlively, John R" uniqKey="Heckenlively J" first="John R." last="Heckenlively">John R. Heckenlively</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI 48109</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Abecasis, Goncalo R" sort="Abecasis, Goncalo R" uniqKey="Abecasis G" first="Gonçalo R." last="Abecasis">Gonçalo R. Abecasis</name><affiliation><nlm:aff id="af7"><addr-line>Center for Statistical Genetics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af8"><addr-line>Department of Biostatistics</addr-line> and,</nlm:aff></affiliation></author><author><name sortKey="Swaroop, Anand" sort="Swaroop, Anand" uniqKey="Swaroop A" first="Anand" last="Swaroop">Anand Swaroop</name><affiliation><nlm:aff id="af1"><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</nlm:aff></affiliation></author></analytic><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part of our continued efforts to define genetic causes of macular degeneration, we performed whole exome sequencing in four individuals of a two-generation family with autosomal dominant maculopathy and identified a rare variant p.Glu1144Lys in Fibrillin 2 (FBN2), a glycoprotein of the elastin-rich extracellular matrix (ECM). Sanger sequencing validated the segregation of this variant in the complete pedigree, including two additional affected and one unaffected individual. Sequencing of 192 maculopathy patients revealed additional rare variants, predicted to disrupt FBN2 function. We then undertook additional studies to explore the relationship of FBN2 to macular disease. We show that FBN2 localizes to Bruch′s membrane and its expression appears to be reduced in aging and AMD eyes, prompting us to examine its relationship with AMD. We detect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD in 10 337 cases and 11 174 controls (OR = 1.10; <italic>P</italic>-value = 3.79 × 10<sup>−5</sup>). Thus, it appears that rare and common variants in a single gene—<italic>FBN2</italic>—can contribute to Mendelian and complex forms of macular degeneration. Our studies provide genetic evidence for a key role of elastin microfibers and Bruch′s membrane in maintaining blood–retina homeostasis and establish the importance of studying orphan diseases for understanding more common clinical phenotypes.</p></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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Hum Mol Genet</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mol. Genet</journal-id><journal-id journal-id-type="publisher-id">hmg</journal-id><journal-id journal-id-type="hwp">hmg</journal-id><journal-title-group><journal-title>Human Molecular Genetics</journal-title></journal-title-group><issn pub-type="ppub">0964-6906</issn><issn pub-type="epub">1460-2083</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24899048</article-id><article-id pub-id-type="pmc">4189898</article-id><article-id pub-id-type="doi">10.1093/hmg/ddu276</article-id><article-id pub-id-type="publisher-id">ddu276</article-id><article-categories><subj-group subj-group-type="heading"><subject>Association Studies Articles</subject></subj-group></article-categories><title-group><article-title>Rare and common variants in extracellular matrix gene Fibrillin 2 (<italic>FBN2</italic>) are associated with macular degeneration</article-title></title-group><contrib-group><contrib 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contrib-type="author"><name><surname>Stambolian</surname><given-names>Dwight</given-names></name><xref ref-type="aff" rid="af43">43</xref><xref ref-type="aff" rid="af44">44</xref></contrib><contrib contrib-type="author"><name><surname>Weeks</surname><given-names>Daniel E.</given-names></name><xref ref-type="aff" rid="af35">35</xref><xref ref-type="aff" rid="af36">36</xref></contrib><contrib contrib-type="author"><name><surname>Bhattacharya</surname><given-names>Shomi S.</given-names></name><xref ref-type="aff" rid="af10">10</xref></contrib><contrib contrib-type="author"><name><surname>Chew</surname><given-names>Emily Y.</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Heckenlively</surname><given-names>John R.</given-names></name><xref ref-type="aff" rid="af9">9</xref></contrib><contrib contrib-type="author"><name><surname>Abecasis</surname><given-names>Gonçalo R.</given-names></name><xref ref-type="aff" rid="af7">7</xref><xref ref-type="aff" rid="af8">8</xref></contrib><contrib contrib-type="author"><name><surname>Swaroop</surname><given-names>Anand</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><aff id="af1"><label>1</label><addr-line>Neurobiology Neurodegeneration and Repair Laboratory</addr-line>,</aff><aff id="af2"><label>2</label><addr-line>Biological Imaging Core</addr-line>,</aff><aff id="af3"><label>3</label><addr-line>Ophthalmic Genetics and Visual Function Branch</addr-line>,</aff><aff id="af4"><label>4</label><addr-line>Section of Epithelial and Retinal Physiology and Disease</addr-line>,</aff><aff id="af5"><label>5</label><addr-line>Section of Immunopathology</addr-line> and</aff><aff id="af6"><label>6</label><addr-line>Clinical Trials Branch, Division of Epidemiology and Clinical Applications</addr-line>,<institution>National Eye Institute, National Institutes of Health</institution>,<addr-line>Bethesda, MD 20892</addr-line>,<country>USA</country>,</aff><aff id="af7"><label>7</label><addr-line>Center for Statistical Genetics</addr-line>,</aff><aff id="af8"><label>8</label><addr-line>Department of Biostatistics</addr-line> and,</aff><aff id="af9"><label>9</label><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI 48109</addr-line>,<country>USA</country>,</aff><aff id="af10"><label>10</label><addr-line>Department of Genetics</addr-line>,<institution>UCL-Institute of Ophthalmology</institution>,<addr-line>Bath Street, London EC1V 9EL</addr-line>,<country>UK</country>,</aff><aff id="af11"><label>11</label><addr-line>Institute for Molecular Biology</addr-line>,<institution>University of Oregon and Oregon Retina</institution>,<addr-line>Eugene, OR 97401</addr-line>,<country>USA</country>,</aff><aff id="af12"><label>12</label><addr-line>Faculty of Medicine, Clinical and Experimental Sciences</addr-line>,<institution>University of Southampton</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country>,</aff><aff id="af13"><label>13</label><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Wisconsin School of Medicine and, Public Health</institution>,<addr-line>Madison, WI 53726</addr-line>,<country>USA</country>,</aff><aff id="af14"><label>14</label><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH 44106</addr-line>,<country>USA</country>,</aff><aff id="af15"><label>15</label><addr-line>Center for Human Genetics Research</addr-line>,<institution>Vanderbilt University</institution>,<addr-line>Nashville, TN 37232</addr-line>,<country>USA</country>,</aff><aff id="af16"><label>16</label><addr-line>Division of Preventive Medicine</addr-line>,<institution>Brigham and Women’s Hospital</institution>,<addr-line>Boston, MA 02215</addr-line>,<country>USA</country>,</aff><aff id="af17"><label>17</label><addr-line>Department of Ophthalmology and Visual Sciences, Moran Eye Center</addr-line>,<institution>University of Utah</institution>,<addr-line>Salt Lake City, UT 84132</addr-line>,<country>USA</country>,</aff><aff id="af18"><label>18</label><addr-line>Hôpital Intercommunal de Créteil,</addr-line><institution>Hôpital Henri Mondor – Université Paris Est Créteil</institution><addr-line>94000</addr-line>,<country>France</country>,</aff><aff id="af19"><label>19</label><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Thessaly School of Medicine</institution>,<addr-line>Larissa</addr-line>,<country>Greece</country>,</aff><aff id="af20"><label>20</label><institution>Institute of Human Genetics, University of Regensburg</institution>,<addr-line>Regensburg 93053</addr-line>,<country>Germany</country>,</aff><aff id="af21"><label>21</label><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>University of Illinois at Chicago</institution>,<addr-line>Chicago</addr-line>,<addr-line>IL 60607</addr-line>,<country>USA</country>,</aff><aff id="af22"><label>22</label><addr-line>Centre for Vision and Vascular Science</addr-line>,<institution>Queen’s University</institution>,<addr-line>Belfast</addr-line>,<country>UK</country>,</aff><aff id="af23"><label>23</label><institution>Wilmer Eye Institute, Johns Hopkins University</institution>,<addr-line>600 N. Wolfe Street, Baltimore, MD 21287</addr-line>,<country>USA</country>,</aff><aff id="af24"><label>24</label><addr-line>Retina Service and Ophthalmology</addr-line>,<institution>Harvard Medical School, Massachusetts Eye and Ear Infirmary</institution>,<addr-line>Boston, MA 02114</addr-line>,<country>USA</country>,</aff><aff id="af25"><label>25</label><institution>The Fred Hollows Foundation</institution>,<addr-line>Auckland</addr-line>,<country>New Zealand</country>,</aff><aff id="af26"><label>26</label><addr-line>School of Social Sciences</addr-line>,<institution>University of New South Wales</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country>,</aff><aff id="af27"><label>27</label><addr-line>Department of Ophthalmology</addr-line> and</aff><aff id="af28"><label>28</label><addr-line>Department of Pathology and Cell Biology</addr-line>,<institution>Columbia University</institution>,<addr-line>New York, NY 10032</addr-line>,<country>USA</country>,</aff><aff id="af29"><label>29</label><addr-line>Department of Ophthalmology</addr-line>,<institution>Seoul National University Bundang Hospital</institution>,<addr-line>Seoul 463-707</addr-line>,<country>Republic of Korea</country>,</aff><aff id="af30"><label>30</label><addr-line>Departments of Medicine (Section of Biomedical Genetics), Ophthalmology and Biostatistics, Neurology, Epidemiology</addr-line>,<institution>Boston University Schools of Medicine and Public Health</institution>,<addr-line>Boston, MA 02215</addr-line>,<country>USA</country>,</aff><aff id="af31"><label>31</label><institution>Texas Biomedical Research Institute</institution>,<addr-line>San Antonio, TX 78245</addr-line>,<country>USA</country>,</aff><aff id="af32"><label>32</label><institution>Cleveland Clinic Foundation, Cole Eye Institute</institution>,<addr-line>Cleveland, OH 44195</addr-line>,<country>USA</country>,</aff><aff id="af33"><label>33</label><institution>Louis Stokes Cleveland VA Medical Center</institution>,<addr-line>Cleveland, OH 44195</addr-line>,<country>USA</country>,</aff><aff id="af34"><label>34</label><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision – Inserm Université Pierre et Marie Curie UMR-S 968</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af35"><label>35</label><addr-line>Department of Human Genetics</addr-line> and</aff><aff id="af36"><label>36</label><addr-line>Department of Biostatistics, Graduate School of Public Health</addr-line>,<institution>University of Pittsburgh</institution>,<addr-line>Pittsburgh, PA 15261</addr-line>,<country>USA</country>,</aff><aff id="af37"><label>37</label><institution>Oregon Health & Science University</institution>,<addr-line>Portland, OR 97239</addr-line>,<country>USA</country>,</aff><aff id="af38"><label>38</label><addr-line>Health Promotion and Development</addr-line>,<institution>School of Nursing</institution>,<addr-line>440 Victoria Building, 3500 Victoria St, Pittsburgh, PA 15261</addr-line>,<country>USA</country>,</aff><aff id="af39"><label>39</label><addr-line>Bascom Palmer Eye Institute and Human Genomics</addr-line>,<institution>University of Miami Miller School of Medicine</institution>,<addr-line>Miami, FL 33125</addr-line>,<country>USA</country>,</aff><aff id="af40"><label>40</label><addr-line>Department of Ophthalmology</addr-line>,<institution>Scheie Eye Institute, University of Pennsylvania</institution>,<addr-line>Philadelphia, PA 19104</addr-line>,<country>USA</country>,</aff><aff id="af41"><label>41</label><addr-line>Department of Ophthalmology, David Geffen School of Medicine</addr-line>,<institution>University of California Los Angeles</institution>,<addr-line>Los Angeles, CA 90095</addr-line>,<country>USA</country>,</aff><aff id="af42"><label>42</label><addr-line>Macular Degeneration Center</addr-line>,<institution>Casey Eye Institute, Oregon Health and Science, University</institution>,<addr-line>Portland, OR 97201</addr-line>,<country>USA</country>,</aff><aff id="af43"><label>43</label><addr-line>Department of Ophthalmology,</addr-line> and</aff><aff id="af44"><label>44</label><addr-line>Department of Genetics</addr-line>,<institution>University of Pennsylvania</institution>,<addr-line>Philadelphia, PA 9104</addr-line>,<country>USA</country></aff></contrib-group><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed. Email: <email>swaroopa@nei.nih.gov</email></corresp></author-notes><pub-date pub-type="ppub"><day>01</day><month>11</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>04</day><month>6</month><year>2014</year></pub-date><volume>23</volume><issue>21</issue><fpage>5827</fpage><lpage>5837</lpage><history><date date-type="received"><day>11</day><month>11</month><year>2013</year></date><date date-type="rev-recd"><day>15</day><month>5</month><year>2014</year></date><date date-type="accepted"><day>2</day><month>6</month><year>2014</year></date></history><permissions><copyright-statement>Published by Oxford University Press 2014. This work is written by (a) US Government employee(s) and is in the public domain in the US.</copyright-statement><copyright-year>2014</copyright-year></permissions><self-uri content-type="pdf" xlink:type="simple" xlink:href="ddu276.pdf"></self-uri><abstract><p>Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part of our continued efforts to define genetic causes of macular degeneration, we performed whole exome sequencing in four individuals of a two-generation family with autosomal dominant maculopathy and identified a rare variant p.Glu1144Lys in Fibrillin 2 (FBN2), a glycoprotein of the elastin-rich extracellular matrix (ECM). Sanger sequencing validated the segregation of this variant in the complete pedigree, including two additional affected and one unaffected individual. Sequencing of 192 maculopathy patients revealed additional rare variants, predicted to disrupt FBN2 function. We then undertook additional studies to explore the relationship of FBN2 to macular disease. We show that FBN2 localizes to Bruch′s membrane and its expression appears to be reduced in aging and AMD eyes, prompting us to examine its relationship with AMD. We detect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD in 10 337 cases and 11 174 controls (OR = 1.10; <italic>P</italic>-value = 3.79 × 10<sup>−5</sup>). Thus, it appears that rare and common variants in a single gene—<italic>FBN2</italic>—can contribute to Mendelian and complex forms of macular degeneration. Our studies provide genetic evidence for a key role of elastin microfibers and Bruch′s membrane in maintaining blood–retina homeostasis and establish the importance of studying orphan diseases for understanding more common clinical phenotypes.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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