A Variant in the SLC35D1 gene is associated with Age-Related Cataract in India

Abstract

 

Purpose

 

To investigate polymorphisms in the solute carrier-35 D1 (SLC35D1) gene which encodes an endoplasmic reticulum nucleotide-sugar transporter (NST).

 

Methods

 

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.

 

Results

 

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.

 

Conclusions

 

The SNP rs2208577 in SLC35D1 showed an association with the rare genotype and cortical and PSC cataract. These findings require replication in other studies.

 

 

Keywords: 537 gene screening • 445 cataract • 539 genetics