Matches in SemOpenAlex for { <https://semopenalex.org/work/W2897631476> ?p ?o ?g. }
- W2897631476 endingPage "862" @default.
- W2897631476 startingPage "847" @default.
- W2897631476 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[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 (OR[A] 0.48; P = 3.75 × 10−8), 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." @default.
- W2897631476 created "2018-10-26" @default.
- W2897631476 creator A5002670189 @default.
- W2897631476 creator A5011555439 @default.
- W2897631476 creator A5013290529 @default.
- W2897631476 creator A5014697122 @default.
- W2897631476 creator A5016233543 @default.
- W2897631476 creator A5016454136 @default.
- W2897631476 creator A5017009749 @default.
- W2897631476 creator A5021614460 @default.
- W2897631476 creator A5024226928 @default.
- W2897631476 creator A5029529953 @default.
- W2897631476 creator A5030554277 @default.
- W2897631476 creator A5031790953 @default.
- W2897631476 creator A5034292913 @default.
- W2897631476 creator A5034303175 @default.
- W2897631476 creator A5035009040 @default.
- W2897631476 creator A5040770914 @default.
- W2897631476 creator A5042450210 @default.
- W2897631476 creator A5043994887 @default.
- W2897631476 creator A5046822527 @default.
- W2897631476 creator A5047405500 @default.
- W2897631476 creator A5052661272 @default.
- W2897631476 creator A5057726956 @default.
- W2897631476 creator A5061016246 @default.
- W2897631476 creator A5062389431 @default.
- W2897631476 creator A5063135348 @default.
- W2897631476 creator A5063363976 @default.
- W2897631476 creator A5064508981 @default.
- W2897631476 creator A5071606253 @default.
- W2897631476 creator A5077208561 @default.
- W2897631476 creator A5077913547 @default.
- W2897631476 creator A5084156654 @default.
- W2897631476 creator A5086641481 @default.
- W2897631476 creator A5087306803 @default.
- W2897631476 creator A5089826182 @default.
- W2897631476 date "2018-10-01" @default.
- W2897631476 modified "2023-10-18" @default.
- W2897631476 title "Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations" @default.
- W2897631476 cites W1968210590 @default.
- W2897631476 cites W1981045056 @default.
- W2897631476 cites W1983990929 @default.
- W2897631476 cites W1984636340 @default.
- W2897631476 cites W1992436001 @default.
- W2897631476 cites W1995869700 @default.
- W2897631476 cites W1999756851 @default.
- W2897631476 cites W2026207762 @default.
- W2897631476 cites W2033151532 @default.
- W2897631476 cites W2034937783 @default.
- W2897631476 cites W2040674753 @default.
- W2897631476 cites W2042421957 @default.
- W2897631476 cites W2051417851 @default.
- W2897631476 cites W2055850604 @default.
- W2897631476 cites W2063097062 @default.
- W2897631476 cites W2076154138 @default.
- W2897631476 cites W2078129874 @default.
- W2897631476 cites W2085167343 @default.
- W2897631476 cites W2092340193 @default.
- W2897631476 cites W2094666761 @default.
- W2897631476 cites W2096791516 @default.
- W2897631476 cites W2097610995 @default.
- W2897631476 cites W2099085143 @default.
- W2897631476 cites W2104549677 @default.
- W2897631476 cites W2106529000 @default.
- W2897631476 cites W2123411711 @default.
- W2897631476 cites W2133520037 @default.
- W2897631476 cites W2141820415 @default.
- W2897631476 cites W2142283589 @default.
- W2897631476 cites W2149791927 @default.
- W2897631476 cites W2151459533 @default.
- W2897631476 cites W2152503296 @default.
- W2897631476 cites W2152664025 @default.
- W2897631476 cites W2154238506 @default.
- W2897631476 cites W2160605010 @default.
- W2897631476 cites W2161633633 @default.
- W2897631476 cites W2162530578 @default.
- W2897631476 cites W2166320441 @default.
- W2897631476 cites W2169113983 @default.
- W2897631476 cites W2265638154 @default.
- W2897631476 cites W2346626662 @default.
- W2897631476 cites W2510973425 @default.
- W2897631476 cites W2511515754 @default.
- W2897631476 cites W2619734682 @default.
- W2897631476 cites W2784025231 @default.
- W2897631476 cites W2940205897 @default.
- W2897631476 doi "https://doi.org/10.1007/s00439-018-1943-7" @default.
- W2897631476 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6754628" @default.
- W2897631476 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30317457" @default.
- W2897631476 hasPublicationYear "2018" @default.
- W2897631476 type Work @default.
- W2897631476 sameAs 2897631476 @default.
- W2897631476 citedByCount "36" @default.
- W2897631476 countsByYear W28976314762019 @default.
- W2897631476 countsByYear W28976314762020 @default.
- W2897631476 countsByYear W28976314762021 @default.
- W2897631476 countsByYear W28976314762022 @default.
- W2897631476 countsByYear W28976314762023 @default.
- W2897631476 crossrefType "journal-article" @default.