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Article Abstract
Aim: To validate six previously known primary open-angle glaucoma (POAG)-related loci in a Korean population.
Methods: Representative POAG-related single-nucleotide polymorphisms (SNPs) from six loci ( (()tonal BHLH transcription factor 7 () () were selected and genotyped from discovery (POAG=309, heathy=5400) and replication cohorts (POAG=310, healthy=5612 and POAG=221, healthy=6244, respectively). Data were analysed using logistic regression to calculate the OR for POAG risk associated with SNP.
Results: From the discovery cohort, rs1900004 in (OR=1.29, p=0.0024); rs1063192 (OR=0.69, p=0.0006), rs2157719 (OR=0.63, p=0.0007) and rs7865618 (OR=0.63, p=0.0006) in , and rs10483727 in (OR=0.68, p=7.9E-05) were nominally associated with the risk of POAG. The replication cohorts revealed nominal associations with rs2157719 (OR=0.72, p=0.0135), rs1063192 (OR=0.63, p=0.0007) and rs7865618 (OR=0.52, p=0.0004) in . A mega-analysis from the entire Korean population revealed significance with rs1063192 (OR=0.77, p=6.0E-05), rs2157719 (OR=0.63, p=0.0007) and rs7865618 (OR=0.58, p=1.9E-06) in and with rs10483727 in (OR=0.79, p=9.4E-05), with the same direction of effect between the discovery association and the replication sample.
Conclusions: Variants near and may require further investigation to obtain more genetic information on POAG development in a Korean population.
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| http://dx.doi.org/10.1136/bjophthalmol-2020-316089 | DOI Listing |
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