Human molecular genetics · 2011
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Wiggs Janey L, Kang Jae Hee, Yaspan Brian L, Mirel Daniel B, Laurie Cathy, Crenshaw Andrew, Brodeur Wendy, Gogarten Stephanie, Olson Lana M, Abdrabou Wael, DelBono Elizabeth, Loomis Stephanie, Haines Jonathan L, Pasquale Louis R, GENEVA Consortium
Аннотация
Primary open-angle glaucoma (POAG) is a genetically complex common disease characterized by progressive optic nerve degeneration that results in irreversible blindness. Recently, a genome-wide association study (GWAS) for POAG in an Icelandic population identified significant associations with single nucleotide polymorphisms (SNPs) between the CAV1 and CAV2 genes on chromosome 7q31. In this study, we confirm that the identified SNPs are associated with POAG in our Caucasian US population and that specific haplotypes located in the CAV1/CAV2 intergenic region are associated with the disease. We also present data suggesting that associations with several CAV1/CAV2 SNPs are significant mostly in women.
Предметные рубрики MeSH
AgedCaveolin 1Caveolin 2DNA, IntergenicFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGlaucoma, Open-AngleHaplotypesHumansIcelandLow Tension GlaucomaMaleMiddle AgedPolymorphism, Single NucleotideReproducibility of ResultsSex CharacteristicsSignal TransductionUnited StatesWhite People