Abstract: Age related cataract (ARC) is an ocular disorder which causes the blindness within age. However, the genes protect the DNA against mutations because they perform an important role during the DNA repair mechanism, but some polymorphic variations may increase the genetic susceptibility of ARC during the DNA repair process. We aimed to determine the frequency of polymorphisms in a DNA repair gene X-Ray complementing group 1 (XRCC1) codon399 (rs25487) and codon194 (rs1799782) in patients of ARC and to evaluate the association with the risk of age related cataract (ARC). In the present case-control study, we used polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) to analyze XRCC1 codon399 and codon194 in 150 patients with ARC (cortical cataract (CC)- 27, nuclear cataract (NC)- 24, posterior sub-capsular (PSC)-64, and mixed type of cataract (MTC)-35) and in 150 age matched healthy controls. Our results revealed that polymorphism in XRCC1 codon399 (rs25487), there was no statistically significant difference for genotype GG (p = 0.17) in both groups, but the data suggested that allele G (OR- 1.48, 95%CI-1.06-2.08, p = 0.02) may be associated with an increased risk of ARC. There was no statistically significant difference was found for genotypes TT (OR-0.88, 95%CI-0.53-1.45, p = 0.62 ), CT (OR- 1.31, 95%CI-0.69-2.51, p = 0.40) and in allelic (allele C-OR- 1.09, 95%CI- 0.79-1.51, p = 0.56) distribution of XRCC1 codon194 (rs1799782) between ARC patients and controls.
Keywords: Age related cataract (ARC), single nucleotide polymorphism (SNP), DNA repair gene, Polymorphism of XRCC1 gene.
Title: A case-control study on the polymorphism of DNA repair gene XRCC1 (rs25487 and rs1799782) and its association with age related cataract (ARC)
Author: Mandeep Kaur, Dr. Promila Mehta, Dr. Rajinder Singh Khalsa, Dr. Ginjinder Kaur
International Journal of Life Sciences Research
ISSN 2348-313X (Print), ISSN 2348-3148 (online)
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