Genetic analysis of primary open-angle glaucoma-related risk alleles in a Korean population: the GLAU-GENDISK study.

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.