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Periasamy Sundaresan, Ravilla Ravidran, Praveen Vashist, Saravanan Vijayan, Dorothea Nitsch, Giovanni Maraini, Monica Camparini, Chakravarthy Usha, James Hejtmancik, Astrid Fletcher; A Variant in the SLC35D1 gene is associated with Age-Related Cataract in India. Invest. Ophthalmol. Vis. Sci. 2013;54(15):2970.
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To investigate polymorphisms in the solute carrier-35 D1 (SLC35D1) gene which encodes an endoplasmic reticulum nucleotide-sugar transporter (NST).
In the INDEYE population based study we randomly selected and enrolled persons aged 40 years and over. Participants underwent lens photography and provided blood for genetic analysis. The Lens Opacities Classification System III (LOCS III) was used for grading cataract: cortical ≥3, posterior sub capsular cataract (PSC) ≥2, nuclear cataract ≥4. Any cataract was defined as any nuclear, cortical or PSC cataract or dense opacities or operated cataract. Controls were defined as the absence of any of the above. Genotyping of SLC35D SNPs (rs2755250, rs2208577) was carried out with Real Time PCR. Analysis was by logistic regression adjusted for age, sex, location and survey design.
Of 7354 participants, 538 had cortical cataract, 1,101 PSC, 2461 nuclear, 4159 any type of cataract and 3195 were controls. rs2755250 and rs2208577were correlated (r=0.6), the control MAFs were 11% and 24% respectively and similar to those reported in HapMed, The genotype frequencies were in Hardy-Weinberg equilibrium for rs2208577 (p=0.4) but not for rs2755250. We report results therefore only for rs2208577.
The SNP rs2208577 in SLC35D1 showed an association with the rare genotype and cortical and PSC cataract. These findings require replication in other studies.
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