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Akira Meguro, Hidenao Ideta, Ryuichi Ideta, Masao Ota, Hidetoshi Inoko; In-depth analysis of the COL2A1 gene in lattice degeneration of the retina. Invest. Ophthalmol. Vis. Sci. 2014;55(13):6435.
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Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing the patient to retinal tears and detachment. We previously suggested a possible association between the collagen type II alpha 1 (COL2A1) polymorphisms and lattice degeneration of the retina. In this study, we performed an in-depth genetic analysis of the COL2A1 region to clarify the contribution of COL2A1 in the development of lattice degeneration of the retina.
A total of 634 Japanese patients with lattice degeneration of the retina and 734 Japanese healthy controls were recruited. We genotyped nine tagging single-nucleotide polymorphisms (SNPs) in COL2A1. We also performed an imputation analysis to evaluate the potential association of un-genotyped COL2A1 SNPs, and 20 SNPs were imputed.
rs4760608 and rs1793953 exhibited significant association with lattice degeneration of the retina (P = 0.0062 and P = 0.0086, respectively). The A allele of rs4760608 and the G allele of rs1793953 had a significantly increased risk of the disease (OR = 1.28, 95% CI = 1.07-1.52 and OR = 1.24, 95% CI = 1.06-1.45, respectively). These two SNPs were in strong linkage disequilibrium (D’ = 0.90, r2 = 0.53).
Our results suggest that the COL2A1 gene variants may contribute to the development of lattice degeneration of the retina. To confirm our findings, future validation studies with other ethnic populations are needed.
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