XRCC1Arg399Gln and Arg194Trp Polymorphisms and Risk of Systemic Lupus Erythematosus in an Iranian Population: A Pilot Study

Abstract

Background. Evidences are suggesting that DNA damage is implicated in development of systemic lupus erythematosus (SLE). Therefore we focused on two commonXRCC1polymorphisms (Arg399Gln and Arg194Trp) in SLE susceptibility in South East of Iran.Methods. Peripheral blood DNA was extracted from 163 SLE patients and 180 healthy controls. PCR-restriction fragment length polymorphism method was used for genotyping ofXRCC1Arg399Gln and Arg194Trp polymorphisms.Results. The frequency of Arg/Gln genotype of theXRCC1Arg399Gln polymorphism was significantly lower in SLE patients than controls. Moreover, lower frequency of Arg/Gln genotype was found in SLE patients with malar rash compared to patients without this manifestation. No association was observed betweenXRCC1Arg194Trp polymorphism and increased risk of SLE in studied population. Haplotype analysis revealed no correlation between four haplotypes ofXRCC1Arg399Gln and Arg194Trp polymorphisms and SLE risk.Conclusion. These findings suggest thatXRCC1399 Arg/Gln heterozygous genotype plays a protective role in SLE susceptibility.