@article {1347427,
	title = {Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations},
	journal = {Hum Genet},
	volume = {137},
	number = {10},
	year = {2018},
	month = {2018 Oct},
	pages = {847-862},
	abstract = {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 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 {\texttimes} 10). By genome-wide association testing we identified a novel candidate locus, rs141186647, harboring EXOC4 (OR 0.48; P = 3.75 {\texttimes} 10), a gene transcribing a component of the exocyst complex involved in vesicle transport. The low frequency and high degree of genetic heterogeneity at this region hampered validation of this finding in predominantly West-African replication sets. Our results suggest that established genetic risk factors play a role in African POAG, however, they do not explain the higher disease load. The high heterogeneity within Africans remains a challenge to identify the genetic commonalities for POAG in this ethnicity, and demands studies of extremely large size.},
	keywords = {African Continental Ancestry Group, Aged, Aged, 80 and over, Female, Genetic Loci, Genome-Wide Association Study, Glaucoma, Open-Angle, Humans, Male, Middle Aged, Thioredoxin Reductase 2, Vesicular Transport Proteins},
	issn = {1432-1203},
	doi = {10.1007/s00439-018-1943-7},
	author = {Bonnemaijer, Pieter W M and Iglesias, Adriana I and Nadkarni, Girish N and Sanyiwa, Anna J and Hassan, Hassan G and Cook, Colin and GIGA Study Group and Simcoe, Mark and Taylor, Kent D and Schurmann, Claudia and Belbin, Gillian M and Kenny, Eimear E and Bottinger, Erwin P and van de Laar, Suzanne and Wiliams, Susan E I and Akafo, Stephen K and Ashaye, Adeyinka O and Zangwill, Linda M and Girkin, Christopher A and Ng, Maggie C Y and Rotter, Jerome I and Weinreb, Robert N and Li, Zheng and Allingham, R Rand and Eyes of Africa Genetics Consortium and Nag, Abhishek and Hysi, Pirro G and Meester-Smoor, Magda A and Wiggs, Janey L and NEIGHBORHOOD Consortium and Hauser, Michael A and Hammond, Christopher J and Lemij, Hans G and Loos, Ruth J F and van Duijn, Cornelia M and Thiadens, Alberta A H J and Klaver, Caroline C W}
}
