caa a22 4500 445861282 CHVBK 20180317145443.0 cr unu---uuuuu 170323e20110101xx s 000 0 eng 10.1007/s00439-010-0904-6 doi (NATIONALLICENCE)springer-10.1007/s00439-010-0904-6 Genome-wide analysis of copy number variants in age-related macular degeneration [Elektronische Daten] [Kacie Meyer, Lea Davis, Emily Schindler, John Beck, Danielle Rudd, A. Grundstad, Todd Scheetz, Terry Braun, John Fingert, Wallace Alward, Young Kwon, James Folk, Stephen Russell, Thomas Wassink, Edwin Stone, Val Sheffield] Age-related macular degeneration (AMD) is a complex genetic disease, with many loci demonstrating appreciable attributable disease risk. Despite significant progress toward understanding the genetic and environmental etiology of AMD, identification of additional risk factors is necessary to fully appreciate and treat AMD pathology. In this study, we investigated copy number variants (CNVs) as potential AMD risk variants in a cohort of 400 AMD patients and 500 AMD-free controls ascertained at the University of Iowa. We used three publicly available copy number programs to analyze signal intensity data from Affymetrix® GeneChip SNP Microarrays. CNVs were ranked based on prevalence in the disease cohort and absence from the control group; high interest CNVs were subsequently confirmed by qPCR. While we did not observe a single-locus "risk CNV” that could account for a major fraction of AMD, we identified several rare and overlapping CNVs containing or flanking compelling candidate genes such as NPHP1 and EFEMP1. These and other candidate genes highlighted by this study deserve further scrutiny as sources of genetic risk for AMD. Springer-Verlag, 2010 Meyer Kacie Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut Davis Lea Department of Psychiatry, University of Illinois, Chicago, IL, USA aut Schindler Emily Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut Beck John Department of Pediatrics, University of Iowa, Iowa City, IA, USA aut Rudd Danielle Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut Grundstad A. Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA, USA aut Scheetz Todd Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut Braun Terry Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut Fingert John Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut Alward Wallace Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA aut Kwon Young Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA aut Folk James Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA aut Russell Stephen Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA aut Wassink Thomas Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut Stone Edwin Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut Sheffield Val Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut Human Genetics Springer-Verlag 129/1(2011-01-01), 91-100 0340-6717 129:1<91 2011 129 439 https://doi.org/10.1007/s00439-010-0904-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0904-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Meyer Kacie Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Davis Lea Department of Psychiatry, University of Illinois, Chicago, IL, USA aut NATIONALLICENCE 700 1- Schindler Emily Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Beck John Department of Pediatrics, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Rudd Danielle Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Grundstad A. Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Scheetz Todd Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Braun Terry Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Fingert John Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Alward Wallace Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Kwon Young Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Folk James Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Russell Stephen Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Wassink Thomas Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Stone Edwin Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Sheffield Val Interdisciplinary Genetics Program, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/1(2011-01-01), 91-100 0340-6717 129:1<91 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer