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Akira Meguro, Hidenao Ideta, Ryuichi Ideta, Hidetoshi Inoko, Nobuhisa Mizuki; Investigation Of The Association Between COL2A1 Gene Variants And Lattice Degeneration Of The Retina. Invest. Ophthalmol. Vis. Sci. 2012;53(14):428.
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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. Since it has been suggested that the collagen type II alpha 1 (COL2A1) gene variants may cause retinal detachment, we investigated whether COL2A1 variants are associated with lattice degeneration of the retina.
Five hundred and fifty Japanese patients with lattice degeneration of the retina and 640 Japanese healthy controls were recruited. We genotyped 9 single-nucleotide polymorphisms (SNPs) in the COL2A1 gene and assessed the allelic diversity among cases and controls.
The major allele of rs1793953 had a significantly increased risk of lattice degeneration of the retina (P = 0.018, OR = 1.23, 95% CI = 1.04-1.45) whereas the other SNPs did not show significant results.
Our results suggest that the COL2A1 gene may play an important role in the largely unknown pathophysiology of lattice degeneration of the retina.
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