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Haoyu Chen, Wanghao Chen, Jianhuan Chen, Qianwen Chen, Weiqi Chen, Chi Pui Pang; Association between SNPs of COL2A1 and rhegmatogenous retinal detachment. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1077.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the association between the Single nucleotide polymorphisms (SNPs) of Collagen, Type 2, alpha 1 (COL2A1) gene and sporadic rhegmatogenous retinal detachment (RRD).
One hundred and eighty two cases with RRD and 182 controls were included in this study. Patients with high myopia, syndromatic retinal detachment were excluded. Genomic DNA was extracted. Genotyping was carried on with Taqman assay for 12 Taq SNPs of CLO2A1, including rs12721428, rs4760608, rs1793937, rs2276454, rs917055, rs2071437, rs1034762, rs2213162, rs3737548, rs1793958, rs1793954 and rs1793931. Association of diseases and alleles or genotypes were assessed with logistic regression controlling age and gender.
None of the twelve SNPs showed deviation from Hardy-Weinberg equilibrium in the controls. The SNP rs4760608 (OR=3.509, 95%CI:1.203-10.238, P=0.022), rs917055 (OR=0.365, 95%CI: 0.076-0.925, P=0.037), rs1793954 are associated with RRD in recessive model (OR=4.031, 95%CI:1.440-11.281, P=0.008). Rs4760608 was also associated with RRD in homozygous model (OR=3.558, 95%CI:1.073-11.994, P=0.038).
The SNPs of COL2A1 were associated with rhegmatogenous retinal detachment.
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