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C.-S. Kim, K. Kim, Y.-J. Yun, K.-N. Kim, C. Kang; Glaucoma Susceptibility Association of a TMTC2 Polymorphism in a Korean Population. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2174.
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A single-nucleotide polymorphism (SNP) in the transmembrane and tetratricopeptide repeat containing 2 gene (TMTC2) has recently been associated with susceptibility to primary open-angle glaucoma (POAG) in a genome-wide association scan using a Japanese population. This study aims to examine whether the glaucoma association of TMTC2 is replicated in a Korean population and to find additionally associated SNPs.
A total of 1,224 unrelated Korean subjects were recruited in the current case-control study and genotyped not only for the SNP (rs7961953) reported for POAG association but also for five additional SNPs in TMTC2, because linkage disequilibrium patterns could be different between Korean and Japanese populations. Genotypes were statistically compared between 270 patients with glaucoma or 204 patients with POAG and 954 control subjects with no eye diseases.
SNP rs7961953 in intron 1 of TMTC2 was associated with glaucoma susceptibility in multivariate logistic regression analysis with adjustment for slight differences in age and gender distribution between glaucoma patients and controls. The major homozygote GG had a 1.4-fold higher odds of having glaucoma compared with the heterozygote GA plus the minor homozygote AA (adjusted odds ratio = 1.42, 95% confidence interval = 1.02 to 1.98, p = 0.036). In contrast, glaucoma susceptibility association was not observed with any of the other SNPs; rs17009817, rs11115342, rs12579483, rs7306509, and rs10506878 (0.12 ≤ p ≤ 0.97), and these were not highly correlated with the associated rs7961953 (0.05 ≤ r-square ≤ 0.37) in the controls. Additionally, none of the SNPs showed association with POAG susceptibility.
In this Korean population, glaucoma susceptibility was associated only with the SNP (rs7961953) in intron 1, which was previously reported for Japanese POAG association, among the six tested SNPs in TMTC2.[The first two authors contributed equally to this work.]
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