Nature genetics · 2016

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

СтатьяМетаанализПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен

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Bailey Jessica N Cooke, Loomis Stephanie J, Kang Jae H, Allingham R Rand, Gharahkhani Puya, Khor Chiea Chuen, Burdon Kathryn P, Aschard Hugues, Chasman Daniel I, Igo Robert P, Hysi Pirro G, Glastonbury Craig A, Ashley-Koch Allison, Brilliant Murray, Brown Andrew A, Budenz Donald L, Buil Alfonso, Cheng Ching-Yu, Choi Hyon, Christen William G, Curhan Gary, De Vivo Immaculata, Fingert John H, Foster Paul J, Fuchs Charles, Gaasterland Douglas, Gaasterland Terry, Hewitt Alex W, Hu Frank, Hunter David J, Khawaja Anthony P, Lee Richard K, Li Zheng, Lichter Paul R, Mackey David A, McGuffin Peter, Mitchell Paul, Moroi Sayoko E, Perera Shamira A, Pepper Keating W, Qi Qibin, Realini Tony, Richards Julia E, Ridker Paul M, Rimm Eric, Ritch Robert, Ritchie Marylyn, Schuman Joel S, Scott William K, Singh Kuldev, Sit Arthur J, Song Yeunjoo E, Tamimi Rulla M, Topouzis Fotis, Viswanathan Ananth C, Verma Shefali Setia, Vollrath Douglas, Wang Jie Jin, Weisschuh Nicole, Wissinger Bernd, Wollstein Gadi, Wong Tien Y, Yaspan Brian L, Zack Donald J, Zhang Kang, Study Epic-Norfolk Eye, ANZRAG Consortium, Weinreb Robert N, Pericak-Vance Margaret A, Small Kerrin, Hammond Christopher J, Aung Tin, Liu Yutao, Vithana Eranga N, MacGregor Stuart, Craig Jamie E, Kraft Peter, Howell Gareth, Hauser Michael A, Pasquale Louis R, Haines Jonathan L, Wiggs Janey L

Аннотация

Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. To identify new susceptibility loci, we performed meta-analysis on genome-wide association study (GWAS) results from eight independent studies from the United States (3,853 cases and 33,480 controls) and investigated the most significantly associated SNPs in two Australian studies (1,252 cases and 2,592 controls), three European studies (875 cases and 4,107 controls) and a Singaporean Chinese study (1,037 cases and 2,543 controls). A meta-analysis of the top SNPs identified three new associated loci: rs35934224[T] in TXNRD2 (odds ratio (OR) = 0.78, P = 4.05 × 10(-11)) encoding a mitochondrial protein required for redox homeostasis; rs7137828[T] in ATXN2 (OR = 1.17, P = 8.73 × 10(-10)); and rs2745572[A] upstream of FOXC1 (OR = 1.17, P = 1.76 × 10(-10)). Using RT-PCR and immunohistochemistry, we show TXNRD2 and ATXN2 expression in retinal ganglion cells and the optic nerve head. These results identify new pathways underlying POAG susceptibility and suggest new targets for preventative therapies.

Предметные рубрики MeSH

Ataxin-2 Forkhead Transcription Factors Genetic Predisposition to Disease Genome-Wide Association Study Glaucoma, Open-Angle Humans Polymorphism, Single Nucleotide Thioredoxin Reductase 2

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

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Аннотация

Предметные рубрики MeSH