ISSN 2348-313X (Print) ISSN 2348-3148 (online) Vol. 8, Issue 4, pp: (79-84), Month: October - December 2020, Available at: www.researchpublish.com
International Journal of Life Sciences Research
A case-control study on the polymorphism of DNA repair gene XRCC1 (rs25487 and rs1799782) and its association with age related cataract (ARC) Mandeep Kaur1, Dr. Promila Mehta2, Dr. Rajinder Singh Khalsa3, Dr. Ginjinder Kaur4 1
Ph.D Research Scholar, 2 Professor, 3Assistant Professor, 4Assistant Professor 1,2,4 3
Department of Human Genetics, Punjabi University, Patiala, Punjab. Department of Ophthalmology, Rajindra Hospital Patiala, Punjab.
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.
I. INTRODUCTION Age related (or senile) cataract is one of the major problems of the eye lens characterized by loss of its transparency [1]. It is a multifactorial disease caused by interaction between environmental and genetic factors. There are various other risk factors which are responsible for its cause for instance: age, obesity, female gender, smoking and alcoholic consumption, steroids, sunlight, or exposure to UV light and, nutritional deficiencies has been influenced in development of cataract [2] but the etiology of age related cataract (ARC) is still unknown. Age related cataract causes damages in lens protein or cells and, it could be possible through some environmental insult on lens [3]. According to a study conducted by Global Burden of Diseases (GBD) in 2010, approximately 18.4% (35.1 million) people have moderately to severe visual impairment, whereas around 33.4% (10.9 million) people were diagnosed completely blind due to age related cataract [4]. Age related cataracts in older Indian population showed that the prevalence of both operated and un-operated cataract cases was similar in North India (73.8%) and South India (71.8%) [5].
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