DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma
Identifieur interne : 000946 ( Pmc/Curation ); précédent : 000945; suivant : 000947DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma
Auteurs : Yutao Liu [États-Unis] ; Melanie E. Garrett [États-Unis] ; Brian L. Yaspan [États-Unis] ; Jessica Cooke Bailey [États-Unis] ; Stephanie J. Loomis [États-Unis] ; Murray Brilliant [États-Unis] ; Donald L. Budenz [États-Unis] ; William G. Christen [États-Unis] ; John H. Fingert [États-Unis] ; Douglas Gaasterland [États-Unis] ; Terry Gaasterland [États-Unis] ; Jae H. Kang [États-Unis] ; Richard K. Lee [États-Unis] ; Paul Lichter [États-Unis] ; Sayoko E. Moroi [États-Unis] ; Anthony Realini [États-Unis] ; Julia E. Richards [États-Unis] ; Joel S. Schuman [États-Unis] ; William K. Scott [États-Unis] ; Kuldev Singh [États-Unis] ; Arthur J. Sit [États-Unis] ; Douglas Vollrath [États-Unis] ; Robert Weinreb [États-Unis] ; Gadi Wollstein [États-Unis] ; Donald J. Zack [États-Unis] ; Kang Zhang [États-Unis] ; Margaret A. Pericak-Vance [États-Unis] ; Jonathan L. Haines [États-Unis] ; Louis R. Pasquale [États-Unis] ; Janey L. Wiggs [États-Unis] ; R. Rand Allingham [États-Unis] ; Allison E. Ashley-Koch [États-Unis] ; Michael A. Hauser [États-Unis]Source :
- Investigative Ophthalmology & Visual Science [ 0146-0404 ] ; 2014.
Abstract
We examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG).
Our study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with the Illumina Human660W_Quad_v1 BeadChip. After removing non–blood-derived and amplified DNA samples, we applied quality control steps based on the mean Log R Ratio and the mean B allele frequency. Subsequently, data from 3057 DNA samples (1599 cases and 1458 controls) were analyzed with PennCNV software. We defined CNVs as those ≥5 kilobases (kb) in size and interrogated by ≥5 consecutive probes. We further limited our investigation to CNVs in known POAG-related genes, including
Genomic duplications of
The CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.
Url:
DOI: 10.1167/iovs.14-15712
PubMed: 25414181
PubMed Central: 4271633
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Budenz</name><affiliation wicri:level="1"><nlm:aff id="aff7">Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Christen, William G" sort="Christen, William G" uniqKey="Christen W" first="William G." last="Christen">William G. Christen</name><affiliation wicri:level="1"><nlm:aff id="aff8">Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Fingert, John H" sort="Fingert, John H" uniqKey="Fingert J" first="John H." last="Fingert">John H. Fingert</name><affiliation wicri:level="1"><nlm:aff id="aff9">Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa</wicri:regionArea></affiliation></author><author><name sortKey="Gaasterland, Douglas" sort="Gaasterland, Douglas" uniqKey="Gaasterland D" first="Douglas" last="Gaasterland">Douglas Gaasterland</name><affiliation wicri:level="1"><nlm:aff id="aff10">Eye Doctors of Washington, Chevy Chase, Maryland, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Eye Doctors of Washington, Chevy Chase, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Gaasterland, Terry" sort="Gaasterland, Terry" uniqKey="Gaasterland T" first="Terry" last="Gaasterland">Terry Gaasterland</name><affiliation wicri:level="1"><nlm:aff id="aff11">Scripps Genome Center, University of California at San Diego, San Diego, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Scripps Genome Center, University of California at San Diego, San Diego, California</wicri:regionArea></affiliation></author><author><name sortKey="Kang, Jae H" sort="Kang, Jae H" uniqKey="Kang J" first="Jae H." last="Kang">Jae H. Kang</name><affiliation wicri:level="1"><nlm:aff id="aff12">Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Lee, Richard K" sort="Lee, Richard K" uniqKey="Lee R" first="Richard K." last="Lee">Richard K. Lee</name><affiliation wicri:level="1"><nlm:aff id="aff13">Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Lichter, Paul" sort="Lichter, Paul" uniqKey="Lichter P" first="Paul" last="Lichter">Paul Lichter</name><affiliation wicri:level="1"><nlm:aff id="aff14">Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan</wicri:regionArea></affiliation></author><author><name sortKey="Moroi, Sayoko E" sort="Moroi, Sayoko E" uniqKey="Moroi S" first="Sayoko E." last="Moroi">Sayoko E. Moroi</name><affiliation wicri:level="1"><nlm:aff id="aff14">Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan</wicri:regionArea></affiliation></author><author><name sortKey="Realini, Anthony" sort="Realini, Anthony" uniqKey="Realini A" first="Anthony" last="Realini">Anthony Realini</name><affiliation wicri:level="1"><nlm:aff id="aff15">Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia, United States;</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia</wicri:regionArea></affiliation></author><author><name sortKey="Richards, Julia E" sort="Richards, Julia E" uniqKey="Richards J" first="Julia E." last="Richards">Julia E. Richards</name><affiliation wicri:level="1"><nlm:aff id="aff14">Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan</wicri:regionArea></affiliation></author><author><name sortKey="Schuman, Joel S" sort="Schuman, Joel S" uniqKey="Schuman J" first="Joel S." last="Schuman">Joel S. Schuman</name><affiliation wicri:level="1"><nlm:aff id="aff16">Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea></affiliation></author><author><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William K." last="Scott">William K. Scott</name><affiliation wicri:level="1"><nlm:aff id="aff17">Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Singh, Kuldev" sort="Singh, Kuldev" uniqKey="Singh K" first="Kuldev" last="Singh">Kuldev Singh</name><affiliation wicri:level="1"><nlm:aff id="aff18">Department of Ophthalmology, Stanford University, Palo Alto, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Stanford University, Palo Alto, California</wicri:regionArea></affiliation></author><author><name sortKey="Sit, Arthur J" sort="Sit, Arthur J" uniqKey="Sit A" first="Arthur J." last="Sit">Arthur J. Sit</name><affiliation wicri:level="1"><nlm:aff id="aff19">Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea></affiliation></author><author><name sortKey="Vollrath, Douglas" sort="Vollrath, Douglas" uniqKey="Vollrath D" first="Douglas" last="Vollrath">Douglas Vollrath</name><affiliation wicri:level="1"><nlm:aff id="aff18">Department of Ophthalmology, Stanford University, Palo Alto, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Stanford University, Palo Alto, California</wicri:regionArea></affiliation></author><author><name sortKey="Weinreb, Robert" sort="Weinreb, Robert" uniqKey="Weinreb R" first="Robert" last="Weinreb">Robert Weinreb</name><affiliation wicri:level="1"><nlm:aff id="aff20">Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California</wicri:regionArea></affiliation></author><author><name sortKey="Wollstein, Gadi" sort="Wollstein, Gadi" uniqKey="Wollstein G" first="Gadi" last="Wollstein">Gadi Wollstein</name><affiliation wicri:level="1"><nlm:aff id="aff16">Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff21">Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Zhang, Kang" sort="Zhang, Kang" uniqKey="Zhang K" first="Kang" last="Zhang">Kang Zhang</name><affiliation wicri:level="1"><nlm:aff id="aff20">Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff17">Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff4">Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio</wicri:regionArea></affiliation></author><author><name sortKey="Pasquale, Louis R" sort="Pasquale, Louis R" uniqKey="Pasquale L" first="Louis R." last="Pasquale">Louis R. Pasquale</name><affiliation wicri:level="1"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff12">Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Wiggs, Janey L" sort="Wiggs, Janey L" uniqKey="Wiggs J" first="Janey L." last="Wiggs">Janey L. Wiggs</name><affiliation wicri:level="1"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Allingham, R Rand" sort="Allingham, R Rand" uniqKey="Allingham R" first="R. Rand" last="Allingham">R. Rand Allingham</name><affiliation wicri:level="1"><nlm:aff id="aff22">Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Ashley Koch, Allison E" sort="Ashley Koch, Allison E" uniqKey="Ashley Koch A" first="Allison E." last="Ashley-Koch">Allison E. Ashley-Koch</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Hauser, Michael A" sort="Hauser, Michael A" uniqKey="Hauser M" first="Michael A." last="Hauser">Michael A. Hauser</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff22">Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25414181</idno><idno type="pmc">4271633</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271633</idno><idno type="RBID">PMC:4271633</idno><idno type="doi">10.1167/iovs.14-15712</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000971</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000971</idno><idno type="wicri:Area/Pmc/Curation">000946</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000946</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma</title><author><name sortKey="Liu, Yutao" sort="Liu, Yutao" uniqKey="Liu Y" first="Yutao" last="Liu">Yutao Liu</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Cellular Biology and Anatomy, Georgia Regents University, Augusta, Georgia, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cellular Biology and Anatomy, Georgia Regents University, Augusta, Georgia</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Garrett, Melanie E" sort="Garrett, Melanie E" uniqKey="Garrett M" first="Melanie E." last="Garrett">Melanie E. Garrett</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Yaspan, Brian L" sort="Yaspan, Brian L" uniqKey="Yaspan B" first="Brian L." last="Yaspan">Brian L. Yaspan</name><affiliation wicri:level="1"><nlm:aff id="aff3">Genentech, Inc., San Francisco, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genentech, Inc., San Francisco, California</wicri:regionArea></affiliation></author><author><name sortKey="Bailey, Jessica Cooke" sort="Bailey, Jessica Cooke" uniqKey="Bailey J" first="Jessica Cooke" last="Bailey">Jessica Cooke Bailey</name><affiliation wicri:level="1"><nlm:aff id="aff4">Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio</wicri:regionArea></affiliation></author><author><name sortKey="Loomis, Stephanie J" sort="Loomis, Stephanie J" uniqKey="Loomis S" first="Stephanie J." last="Loomis">Stephanie J. Loomis</name><affiliation wicri:level="1"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Brilliant, Murray" sort="Brilliant, Murray" uniqKey="Brilliant M" first="Murray" last="Brilliant">Murray Brilliant</name><affiliation wicri:level="1"><nlm:aff id="aff6">Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin</wicri:regionArea></affiliation></author><author><name sortKey="Budenz, Donald L" sort="Budenz, Donald L" uniqKey="Budenz D" first="Donald L." last="Budenz">Donald L. Budenz</name><affiliation wicri:level="1"><nlm:aff id="aff7">Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Christen, William G" sort="Christen, William G" uniqKey="Christen W" first="William G." last="Christen">William G. Christen</name><affiliation wicri:level="1"><nlm:aff id="aff8">Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Fingert, John H" sort="Fingert, John H" uniqKey="Fingert J" first="John H." last="Fingert">John H. Fingert</name><affiliation wicri:level="1"><nlm:aff id="aff9">Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa</wicri:regionArea></affiliation></author><author><name sortKey="Gaasterland, Douglas" sort="Gaasterland, Douglas" uniqKey="Gaasterland D" first="Douglas" last="Gaasterland">Douglas Gaasterland</name><affiliation wicri:level="1"><nlm:aff id="aff10">Eye Doctors of Washington, Chevy Chase, Maryland, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Eye Doctors of Washington, Chevy Chase, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Gaasterland, Terry" sort="Gaasterland, Terry" uniqKey="Gaasterland T" first="Terry" last="Gaasterland">Terry Gaasterland</name><affiliation wicri:level="1"><nlm:aff id="aff11">Scripps Genome Center, University of California at San Diego, San Diego, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Scripps Genome Center, University of California at San Diego, San Diego, California</wicri:regionArea></affiliation></author><author><name sortKey="Kang, Jae H" sort="Kang, Jae H" uniqKey="Kang J" first="Jae H." last="Kang">Jae H. Kang</name><affiliation wicri:level="1"><nlm:aff id="aff12">Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Lee, Richard K" sort="Lee, Richard K" uniqKey="Lee R" first="Richard K." last="Lee">Richard K. Lee</name><affiliation wicri:level="1"><nlm:aff id="aff13">Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Lichter, Paul" sort="Lichter, Paul" uniqKey="Lichter P" first="Paul" last="Lichter">Paul Lichter</name><affiliation wicri:level="1"><nlm:aff id="aff14">Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan</wicri:regionArea></affiliation></author><author><name sortKey="Moroi, Sayoko E" sort="Moroi, Sayoko E" uniqKey="Moroi S" first="Sayoko E." last="Moroi">Sayoko E. Moroi</name><affiliation wicri:level="1"><nlm:aff id="aff14">Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan</wicri:regionArea></affiliation></author><author><name sortKey="Realini, Anthony" sort="Realini, Anthony" uniqKey="Realini A" first="Anthony" last="Realini">Anthony Realini</name><affiliation wicri:level="1"><nlm:aff id="aff15">Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia, United States;</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia</wicri:regionArea></affiliation></author><author><name sortKey="Richards, Julia E" sort="Richards, Julia E" uniqKey="Richards J" first="Julia E." last="Richards">Julia E. Richards</name><affiliation wicri:level="1"><nlm:aff id="aff14">Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan</wicri:regionArea></affiliation></author><author><name sortKey="Schuman, Joel S" sort="Schuman, Joel S" uniqKey="Schuman J" first="Joel S." last="Schuman">Joel S. Schuman</name><affiliation wicri:level="1"><nlm:aff id="aff16">Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea></affiliation></author><author><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William K." last="Scott">William K. Scott</name><affiliation wicri:level="1"><nlm:aff id="aff17">Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Singh, Kuldev" sort="Singh, Kuldev" uniqKey="Singh K" first="Kuldev" last="Singh">Kuldev Singh</name><affiliation wicri:level="1"><nlm:aff id="aff18">Department of Ophthalmology, Stanford University, Palo Alto, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Stanford University, Palo Alto, California</wicri:regionArea></affiliation></author><author><name sortKey="Sit, Arthur J" sort="Sit, Arthur J" uniqKey="Sit A" first="Arthur J." last="Sit">Arthur J. Sit</name><affiliation wicri:level="1"><nlm:aff id="aff19">Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea></affiliation></author><author><name sortKey="Vollrath, Douglas" sort="Vollrath, Douglas" uniqKey="Vollrath D" first="Douglas" last="Vollrath">Douglas Vollrath</name><affiliation wicri:level="1"><nlm:aff id="aff18">Department of Ophthalmology, Stanford University, Palo Alto, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Stanford University, Palo Alto, California</wicri:regionArea></affiliation></author><author><name sortKey="Weinreb, Robert" sort="Weinreb, Robert" uniqKey="Weinreb R" first="Robert" last="Weinreb">Robert Weinreb</name><affiliation wicri:level="1"><nlm:aff id="aff20">Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California</wicri:regionArea></affiliation></author><author><name sortKey="Wollstein, Gadi" sort="Wollstein, Gadi" uniqKey="Wollstein G" first="Gadi" last="Wollstein">Gadi Wollstein</name><affiliation wicri:level="1"><nlm:aff id="aff16">Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff21">Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Zhang, Kang" sort="Zhang, Kang" uniqKey="Zhang K" first="Kang" last="Zhang">Kang Zhang</name><affiliation wicri:level="1"><nlm:aff id="aff20">Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff17">Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff4">Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio</wicri:regionArea></affiliation></author><author><name sortKey="Pasquale, Louis R" sort="Pasquale, Louis R" uniqKey="Pasquale L" first="Louis R." last="Pasquale">Louis R. Pasquale</name><affiliation wicri:level="1"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff12">Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Wiggs, Janey L" sort="Wiggs, Janey L" uniqKey="Wiggs J" first="Janey L." last="Wiggs">Janey L. Wiggs</name><affiliation wicri:level="1"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Allingham, R Rand" sort="Allingham, R Rand" uniqKey="Allingham R" first="R. Rand" last="Allingham">R. Rand Allingham</name><affiliation wicri:level="1"><nlm:aff id="aff22">Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Ashley Koch, Allison E" sort="Ashley Koch, Allison E" uniqKey="Ashley Koch A" first="Allison E." last="Ashley-Koch">Allison E. Ashley-Koch</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Hauser, Michael A" sort="Hauser, Michael A" uniqKey="Hauser M" first="Michael A." last="Hauser">Michael A. Hauser</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff22">Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author></analytic><series><title level="j">Investigative Ophthalmology & Visual Science</title><idno type="ISSN">0146-0404</idno><idno type="eISSN">1552-5783</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="st1"><title>Purpose.</title><p>We examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG).</p></sec><sec id="st2"><title>Methods.</title><p>Our study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with the Illumina Human660W_Quad_v1 BeadChip. After removing non–blood-derived and amplified DNA samples, we applied quality control steps based on the mean Log R Ratio and the mean B allele frequency. Subsequently, data from 3057 DNA samples (1599 cases and 1458 controls) were analyzed with PennCNV software. We defined CNVs as those ≥5 kilobases (kb) in size and interrogated by ≥5 consecutive probes. We further limited our investigation to CNVs in known POAG-related genes, including <italic>CDKN2B-AS1</italic>, <italic>TMCO1</italic>, <italic>SIX1/SIX6</italic>, <italic>CAV1/CAV2</italic>, the <italic>LRP12</italic>-<italic>ZFPM2</italic> region, <italic>GAS7</italic>, <italic>ATOH7</italic>, <italic>FNDC3B</italic>, <italic>CYP1B1</italic>, <italic>MYOC</italic>, <italic>OPTN</italic>, <italic>WDR36</italic>, <italic>SRBD1</italic>, <italic>TBK1</italic>, and <italic>GALC</italic>.</p></sec><sec id="st3"><title>Results.</title><p>Genomic duplications of <italic>CDKN2B-AS1</italic> and <italic>TMCO1</italic> were each found in a single case. Two cases carried duplications in the <italic>GAS7</italic> region. Genomic deletions of <italic>SIX6</italic> and <italic>ATOH7</italic> were each identified in one case. One case carried a <italic>TBK1</italic> deletion and another case carried a <italic>TBK1</italic> duplication. No controls had duplications or deletions in these six genes. A single control had a duplication in the <italic>MYOC</italic> region. Deletions of <italic>GALC</italic> were observed in five cases and two controls.</p></sec><sec id="st4"><title>Conclusions.</title><p>The CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.</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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Invest Ophthalmol Vis Sci</journal-id><journal-id journal-id-type="iso-abbrev">Invest. Ophthalmol. Vis. Sci</journal-id><journal-id journal-id-type="hwp">iovs</journal-id><journal-id journal-id-type="pmc">iovs</journal-id><journal-id journal-id-type="publisher-id">IOVS</journal-id><journal-title-group><journal-title>Investigative Ophthalmology & Visual Science</journal-title></journal-title-group><issn pub-type="ppub">0146-0404</issn><issn pub-type="epub">1552-5783</issn><publisher><publisher-name>The Association for Research in Vision and Ophthalmology</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25414181</article-id><article-id pub-id-type="pmc">4271633</article-id><article-id pub-id-type="doi">10.1167/iovs.14-15712</article-id><article-id pub-id-type="sici">iovs-55-11-80</article-id><article-id pub-id-type="other">IOVS-14-15712</article-id><article-categories><subj-group subj-group-type="heading"><subject>Articles</subject><subj-group><subject>Genetics</subject></subj-group></subj-group></article-categories><title-group><article-title>DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma</article-title><alt-title alt-title-type="runhead">DNA Copy Number Variants in POAG</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Liu</surname><given-names>Yutao</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Garrett</surname><given-names>Melanie E.</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Yaspan</surname><given-names>Brian L.</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bailey</surname><given-names>Jessica Cooke</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Loomis</surname><given-names>Stephanie J.</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Brilliant</surname><given-names>Murray</given-names></name><xref ref-type="aff" rid="aff6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Budenz</surname><given-names>Donald L.</given-names></name><xref ref-type="aff" rid="aff7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Christen</surname><given-names>William G.</given-names></name><xref ref-type="aff" rid="aff8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fingert</surname><given-names>John H.</given-names></name><xref ref-type="aff" rid="aff9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gaasterland</surname><given-names>Douglas</given-names></name><xref ref-type="aff" rid="aff10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gaasterland</surname><given-names>Terry</given-names></name><xref ref-type="aff" rid="aff11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kang</surname><given-names>Jae H.</given-names></name><xref ref-type="aff" rid="aff12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Richard K.</given-names></name><xref ref-type="aff" rid="aff13"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lichter</surname><given-names>Paul</given-names></name><xref ref-type="aff" rid="aff14"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Moroi</surname><given-names>Sayoko E.</given-names></name><xref ref-type="aff" rid="aff14"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Realini</surname><given-names>Anthony</given-names></name><xref ref-type="aff" rid="aff15"><sup>15</sup></xref></contrib><contrib contrib-type="author"><name><surname>Richards</surname><given-names>Julia E.</given-names></name><xref ref-type="aff" rid="aff14"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schuman</surname><given-names>Joel S.</given-names></name><xref ref-type="aff" rid="aff16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>William K.</given-names></name><xref ref-type="aff" rid="aff17"><sup>17</sup></xref></contrib><contrib contrib-type="author"><name><surname>Singh</surname><given-names>Kuldev</given-names></name><xref ref-type="aff" rid="aff18"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Sit</surname><given-names>Arthur J.</given-names></name><xref ref-type="aff" rid="aff19"><sup>19</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vollrath</surname><given-names>Douglas</given-names></name><xref ref-type="aff" rid="aff18"><sup>18</sup></xref></contrib><contrib contrib-type="author"><name><surname>Weinreb</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="aff20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wollstein</surname><given-names>Gadi</given-names></name><xref ref-type="aff" rid="aff16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Zack</surname><given-names>Donald J.</given-names></name><xref ref-type="aff" rid="aff21"><sup>21</sup></xref></contrib><contrib contrib-type="author"><name><surname>Zhang</surname><given-names>Kang</given-names></name><xref ref-type="aff" rid="aff20"><sup>20</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pericak-Vance</surname><given-names>Margaret A.</given-names></name><xref ref-type="aff" rid="aff17"><sup>17</sup></xref></contrib><contrib contrib-type="author"><name><surname>Haines</surname><given-names>Jonathan L.</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pasquale</surname><given-names>Louis R.</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref><xref ref-type="aff" rid="aff12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wiggs</surname><given-names>Janey L.</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Allingham</surname><given-names>R. Rand</given-names></name><xref ref-type="aff" rid="aff22"><sup>22</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ashley-Koch</surname><given-names>Allison E.</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hauser</surname><given-names>Michael A.</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref><xref ref-type="aff" rid="aff22"><sup>22</sup></xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Cellular Biology and Anatomy, Georgia Regents University, Augusta, Georgia, United States</aff><aff id="aff2"><label>2</label>Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</aff><aff id="aff3"><label>3</label>Genentech, Inc., San Francisco, California, United States</aff><aff id="aff4"><label>4</label>Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States</aff><aff id="aff5"><label>5</label>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</aff><aff id="aff6"><label>6</label>Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, United States</aff><aff id="aff7"><label>7</label>Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, United States</aff><aff id="aff8"><label>8</label>Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</aff><aff id="aff9"><label>9</label>Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States</aff><aff id="aff10"><label>10</label>Eye Doctors of Washington, Chevy Chase, Maryland, United States</aff><aff id="aff11"><label>11</label>Scripps Genome Center, University of California at San Diego, San Diego, California, United States</aff><aff id="aff12"><label>12</label>Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</aff><aff id="aff13"><label>13</label>Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, United States</aff><aff id="aff14"><label>14</label>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</aff><aff id="aff15"><label>15</label>Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia, United States;</aff><aff id="aff16"><label>16</label>Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States</aff><aff id="aff17"><label>17</label>Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States</aff><aff id="aff18"><label>18</label>Department of Ophthalmology, Stanford University, Palo Alto, California, United States</aff><aff id="aff19"><label>19</label>Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States</aff><aff id="aff20"><label>20</label>Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California, United States</aff><aff id="aff21"><label>21</label>Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland, United States</aff><aff id="aff22"><label>22</label>Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, United States</aff><author-notes><corresp id="cor1">Correspondence: Yutao Liu, 1460 Laney Walker Boulevard, CB1101, Augusta, GA 30912, USA; <email>yutliu@gru.edu</email></corresp></author-notes><pub-date pub-type="epub"><day>18</day><month>12</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>12</month><year>2014</year></pub-date><volume>55</volume><issue>12</issue><fpage>8251</fpage><lpage>8258</lpage><history><date date-type="received"><day>22</day><month>9</month><year>2014</year></date><date date-type="accepted"><day>6</day><month>11</month><year>2014</year></date></history><permissions><copyright-statement>Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.</copyright-statement><copyright-year>2014</copyright-year></permissions><abstract><sec id="st1"><title>Purpose.</title><p>We examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG).</p></sec><sec id="st2"><title>Methods.</title><p>Our study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with the Illumina Human660W_Quad_v1 BeadChip. After removing non–blood-derived and amplified DNA samples, we applied quality control steps based on the mean Log R Ratio and the mean B allele frequency. Subsequently, data from 3057 DNA samples (1599 cases and 1458 controls) were analyzed with PennCNV software. We defined CNVs as those ≥5 kilobases (kb) in size and interrogated by ≥5 consecutive probes. We further limited our investigation to CNVs in known POAG-related genes, including <italic>CDKN2B-AS1</italic>, <italic>TMCO1</italic>, <italic>SIX1/SIX6</italic>, <italic>CAV1/CAV2</italic>, the <italic>LRP12</italic>-<italic>ZFPM2</italic> region, <italic>GAS7</italic>, <italic>ATOH7</italic>, <italic>FNDC3B</italic>, <italic>CYP1B1</italic>, <italic>MYOC</italic>, <italic>OPTN</italic>, <italic>WDR36</italic>, <italic>SRBD1</italic>, <italic>TBK1</italic>, and <italic>GALC</italic>.</p></sec><sec id="st3"><title>Results.</title><p>Genomic duplications of <italic>CDKN2B-AS1</italic> and <italic>TMCO1</italic> were each found in a single case. Two cases carried duplications in the <italic>GAS7</italic> region. Genomic deletions of <italic>SIX6</italic> and <italic>ATOH7</italic> were each identified in one case. One case carried a <italic>TBK1</italic> deletion and another case carried a <italic>TBK1</italic> duplication. No controls had duplications or deletions in these six genes. A single control had a duplication in the <italic>MYOC</italic> region. Deletions of <italic>GALC</italic> were observed in five cases and two controls.</p></sec><sec id="st4"><title>Conclusions.</title><p>The CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.</p></sec></abstract><abstract abstract-type="precis"><p>Our study examined DNA copy number variants of known glaucoma genes in two large cohorts - NEIGHBOR and GLAUGEN. We identified rare deletions and/or duplications in a few glaucoma genes only in POAG cases. Our data suggest potential role of these rare CNVs in POAG pathogenesis.</p></abstract><kwd-group><title>Keywords</title><kwd>DNA copy number variants</kwd><kwd>POAG</kwd><kwd>genetics</kwd><kwd><italic>SIX6</italic></kwd><kwd><italic>GAS7</italic></kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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