Lack of association between three common genetic variations of XPC and susceptibility to age-related macular degeneration, a preliminary study

Abstract

Background: Numerous association studies have indicated that genetic alterations in genes involved in DNA repair processes are associated with the risk of age-related macular degeneration (ARMD). There is no published study on the relationship between common xeroderma pigmentosum complementation group C (XPC, MIM 613208) polymorphisms and susceptibility to ARMD. The aim of this study is to determine whether three common (Ala499Val, Lys939Gln, and PAT) genetic variants of XPC are associated with the risk of developing ARMD. A total of 120 ARMD patients and 118 healthy controls were included in the study. Genotyping analyses were carried out by PCR-based methods. Results: Our analysis revealed that there was no relationship between the XPC polymorphisms and susceptibility to ARMD. In both case and control groups, strong linkage disequilibrium existed between three common (Ala499Val, Lys939Gln, and PAT) genetic polymorphisms of XPC. Statistical analysis showed no association between the haplotypes and the risk of ARMD. Conclusions: The present data indicated that the common polymorphisms of XPC are not susceptible genetic variations for ARMD.