| GL F-021 |
| Association of variants near SIX1, CDKN2B-AS1, and ATOH7 gene with primary open-angle glaucoma in a Korean population. |
| (1) Department of Ophthalmology, Seoul National University College of Medicine, Department of Ophthalmology, Seoul National University Hospital
(2) Department of Ophthalmology, SMG-SNU Boramae Medical Center
(3) Department of Ophthalmology, Seoul National University Hospital Healthcare System Gangnam Center |
| Yong Woo Kim (1), Yu Jeong Kim (1), Seok Hwan Kim (1,2), Hyuk Jin Choi (1,3), Young Kook Kim (1), Ki Ho Park (1), Jin Wook Jeoung (1) |
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목적 : To validate previously known susceptibility loci and low-frequency variants associated with primary open-angle glaucoma (POAG) in a Korean population by exome-array analysis.
방법 : Three hundred nine patients with POAG and 5400 healthy controls from population-based cohorts in the Korean Genome and Epidemiology Study (KoGES) participated in this study. Study samples were processed using a HumanExome Bead-Chip 12v1-1 system from Illumina, Inc. Data were analyzed using an unconditional logistic regression to calculate the odds ratio (OR) as an estimate of the relative risk of POAG associated with single nucleotide polymorphism (SNP) genotypes.
결과 : Previously identified glaucoma-related loci, i.e., rs10483727 (OR = 0.68, P = 7.9E–05) near SIX1, rs2157719 (OR = 0.63, P = 0.0007) and rs1063192 (OR = 0.69, P = 0.0006) in CDKN2B-AS1, and rs1900004 (OR = 1.29, P = 0.002) near ATOH7, were significantly associated with the risk of POAG. In contrast, SNPs rs1192415 near CDC7–TGFBR3 (P = 0.97), rs4236601 near CAV1 (P = 0.25), and rs4656461 near TMCO1 (P = 0.86) were not significantly associated with the risk of POAG.
결론 : Some previously identified glaucoma-related loci were confirmed in POAG patients in Korea, where the prevalence of normal-tension glaucoma (NTG) is higher than in other region or race. Our findings may provide further insights into the pathogenesis of glaucoma.
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