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A. Shanker, P. Sundaresan, P. Vashist, R. D. Ravindran, B. Talwar, G. Maraini, D. Nitsch, J. F. Hejtmancik, B. A. Nonyane, A. E. Fletcher; EPHA2 Polymorphisms and Age-Related Cataract in India - Findings From the Indeye Genetics Study. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4547.
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Age-related cataract is a major cause of blindness worldwide. Previous studies have shown that the gene EPHA2 is associated with age-related cataract in those of European descent. The aim of the present study was to confirm previous associations of single nucleotide polymorphisms (SNPs) in a study of age-related cataract in India.
7068 participants aged 40 and above from the two centres (North and South India) of the INDEYE study gave consent to blood collection and genotyping. Digitised lens images of each eye were graded by the Lens Opacification Classification System (LOCS III). The prevalence of any type of cataract (nuclear >=4 or cortical >=3, Posterior SubCapsular PSC>=2, or dense or operated in either eye) increased with age. Genotyping of rs3754334 and rs7543472 was carried out with RT-PCR. Logistic regression was used to determine the association between any type of cataract and SNPs, adjusted for age, sex, study centre and clustering in villages. Associations were examined also with specific types of cataract.
Genotype frequencies for rs3754334 were 43% (CC), 45% (CT) and 12% (TT) in controls and for rs7543472 63% (CC), 34% (CT) and 4% (TT) with no violation of Hardy-Weinberg Equilibrium (p=0.75 and 0.54, respectively). There was no evidence for an association of rs3754334 TT with cataract (p=0.57), nor was there evidence for an association with cortical cataract (p=0.69), nor PSC (p=0.94), nor nuclear cataract (p=0.92).There was a borderline association between rs7543472 TT and any form of cataract when compared to rs7543472 CC with an odds ratio (OR) of 1.31 with 95% confidence interval (0.97, 1.77); p=0.074. This association reflected mainly the association of rs7543472 TT with cortical cataract with OR 2.06 (1.14, 3.70); p=0.015 and PSC with OR 1.73 (1.20, 2.51); p=0.004. There was weaker association of rs7543472 TT with nuclear cataract with OR 1.37 (1.01, 1.88); p=0.045.
In the Indian population there is evidence for association of rs7543472 with age-related cataract, in particular cortical and posterior sub-capsular forms.
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