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Periasamy Sundaresan, Namburi Prasanthi, Govindarajan Gowthaman, Subbaiah R Krishnadas, Manoranjan Das, Colin E Willoughby; Involvement of collagen - related genes and its influence on keratoconus and primary open angle glaucoma patients in India. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3822.
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Central corneal thickness (CCT) is the clinical characteristic feature for keratoconus (KC) and one of the risk factor for primary open angle glaucoma (POAG). Recent genome wide association studies (GWAS) for CCT in KC and POAG have shown the involvement of collagen - related genes as potential risk factors for disease pathogenesis. The aim of the present study is to investigate the possible genetic association of COL5A1, COL8A2 and RXRA-COL5A1 genes polymorphisms with KC and POAG in Indian population.
In this case-control association study, 286 unrelated patient samples (150 primary open angle glaucoma -POAG and 136 keratoconus -KC) and 300 healthy control subjects of the same ethnic background were recruited. Two single-nucleotide polymorphisms (SNPs) in COL5A1 (rs1536478 and rs7044529), one SNP in COL8A2 (rs96067) and one SNP in RXRA-COL5A1 (rs1536482) were genotyped in all study subjects using TaqMan SNP genotyping assay. The genotype frequencies were calculated by STATA statistical software (version 8.1).
Statistically significant association was observed in one SNP of COL5A1 (rs7044529, p= 0.015) between cases (POAG & KC) and the controls. In separate analysis we identified more significant association of rs7044529 between KC and controls (p=0.024) whereas negative association was observed in POAG and controls. In case of other three SNPs (rs1536478, rs96067, rs1536482), insignificant association was detected in both combined and solitary statistical analysis between the cases and controls
Our data suggests the possibility of genetic variant of COL5A1 (rs7044529) is the major risk factor in Indian population with KC. There was no association of collagen-related gene variants with POAG. This suggests that other than CCT some other risk factors might have involved in the disease pathogenesis. This is the first study to report the association of collagen-related genes in patients with KC and POAG in an Indian cohort.
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