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F. Mabuchi, Y. Sakurada, K. Kashiwagi, Z. Yamagata, H. Iijima, S. Tsukahara; Association Between the Common Variants on Chromosome 2 and Primary Open Angle Glaucoma in the Japanese Population. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2177.
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© ARVO (1962-2015); The Authors (2016-present)
It was reported that the common variants (rs1533428 and rs12994401) on chromosome 2p were associated with primary open angle glaucoma (POAG) in the Afro-Caribbean population of Barbados. This study was performed to assess whether these polymorphisms were associated with POAG in the Japanese population.
Four hundred and twenty-five Japanese patients with POAG, including normal tension glaucoma (NTG, n = 213) and high tension glaucoma (HTG, n = 212) and 191 control subjects without glaucoma were analyzed for polymorphisms of rs1533428 and rs12994401 on the chromosome 2p. The mean age at the time of blood sampling was 64.0 ± 13.7 years (mean ± SD) in patients with NTG, 62.9 ± 14.8 years in patients with POAG and 65.7 ± 11.4 years in the control subjects. The genotype and allele frequencies were compared between the patients with NTG or HTG and the control subjects.
No significant differences were observed (P > 0.05, Chi-square test or Fisher’s exact test) regarding rs1533428 (TT: 16.0%, CT: 46.9%, CC: 37.1%, T allele: 39.4%, C allele: 60.6% for patients with NTG; TT: 15.6%, CT: 43.4%, CC: 41.0%, T allele: 37.3%, C allele: 62.7% for patients with HTG; TT: 15.7%, CT: 44.0%, CC: 40.3%, T allele: 37.7%, C allele: 62.3% for control subjects) and rs12994401 (TT: 12.2%, CT: 44.6%, CC: 43.2%, T allele: 34.5%, C allele: 65.5% for patients with NTG; TT: 11.8%, CT: 48.6%, CC: 39.6%, T allele: 36.1%, C allele: 63.9% for patients with HTG; TT: 8.4%, CT: 52.9%, CC: 38.7%, T allele: 34.8%, C allele: 65.2% for control subjects) genotype and allele frequencies between the patients with NTG or HTG and the control subjects. In addition, no significant differences (P > 0.05, Chi-square test) were observed in the haplotype frequencies of rs1533428 and rs12994401 between the patients with NTG or HTG and the control subjects.
These two polymorphisms are markers of nearby susceptible gene polymorphism responsible for POAG in the Afro-Caribbean population, and this locus is considered not to be associated with POAG in the Japanese population.
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