作者
Pieter WM Bonnemaijer, Adriana I Iglesias, Girish N Nadkarni, Anna J Sanyiwa, Hassan G Hassan, Colin Cook, GIGA Study Group, Mark Simcoe, Kent D Taylor, Claudia Schurmann, Gillian M Belbin, Eimear E Kenny, Erwin P Bottinger, Suzanne van de Laar, Susan EI Wiliams, Stephen K Akafo, Adeyinka O Ashaye, Linda M Zangwill, Christopher A Girkin, Maggie CY Ng, Jerome I Rotter, Robert N Weinreb, Zheng Li, R Rand Allingham, Eyes of Africa Genetics Consortium, Abhishek Nag, Pirro G Hysi, Magda A Meester-Smoor, Janey L Wiggs, NEIGHBORHOOD Consortium, Michael A Hauser, Christopher J Hammond, Hans G Lemij, Ruth JF Loos, Cornelia M van Duijn, Alberta AHJ Thiadens, Caroline CW Klaver
发表日期
2018/10
期刊
Human genetics
卷号
137
页码范围
847-862
出版商
Springer Berlin Heidelberg
简介
Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans. So far, worldwide efforts to elucidate the genetic complexity of POAG in African populations has been limited. We conducted a genome-wide association study in 1113 POAG cases and 1826 controls from Tanzanian, South African and African American study samples. Apart from confirming evidence of association at TXNRD2 (rs16984299; OR[T] 1.20; P = 0.003), we found that a genetic risk score combining the effects of the 15 previously reported POAG loci was significantly associated with POAG in our samples (OR 1.56; 95% CI 1.26–1.93; P = 4.79 × 10−5). By genome-wide association testing we identified a novel candidate locus, rs141186647, harboring EXOC4 …
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PWM Bonnemaijer, AI Iglesias, GN Nadkarni… - Human genetics, 2018