Abstract
BackgroundImpaired deoxyribonucleic acid (DNA) repair may induce an autoimmune response in susceptible individuals. The association between DNA repair gene XRCC1 Arg399Gln gene polymorphism and susceptibility of systemic lupus erythematosus (SLE) is controversial. This study aimed to detect the association of XRCC1 Arg399Gln gene polymorphism with SLE and its clinical manifestations in the Egyptian population.ResultsA significant association was found between weight loss and genotype GG (P = 0.048); however, genotype AG was significantly associated with high serum creatinine and low C3 level (P = 0.039, P = 0.009, respectively). On the other hand, there was no significant difference between patients and controls regarding genotype and allele frequency.ConclusionsAn association was found between weight loss, high serum creatinine, and low C3 level and genotypes of XRCC1 Arg 399 Gln gene polymorphism.
Highlights
Impaired deoxyribonucleic acid (DNA) repair may induce an autoimmune response in susceptible individuals
Regarding genotype and allele frequency of XRCC1 Arg 399 Gln polymorphism, Table 1 shows that genotype AA was more frequent in controls (44.4%) than in systemic lupus erythematosus (SLE) patients (33.4%), genotype GG was more frequent in SLE patients (22.2%) than in controls (11.2%), and genotype AG was distributed between both groups with 44.4% for each of them
Among the SLE patients, the highest proportion of them (44.4%) had genotype AG followed by genotype AA and genotype GG with 33.4% and 22.2%, respectively
Summary
Impaired deoxyribonucleic acid (DNA) repair may induce an autoimmune response in susceptible individuals. The association between DNA repair gene XRCC1 Arg399Gln gene polymorphism and susceptibility of systemic lupus erythematosus (SLE) is controversial. SLE incidence ranges from 20 to 150 patients per 100, 000 individuals, and its prevalence differs with genetic susceptibility, race, ethnicity, and socioeconomic factors [3]. It occurs more frequently in childbearing females with a female to male ratio of up to 13:1 [4]. Impaired DNA repair may induce an autoimmune response in susceptible individuals. DNA damage can be produced by endogenous factors involving reactive oxygen species, or indirectly during base excision repair (BER) pathway for DNA damage, or exogenous factors as chemicals, ionizing radiation, and ultraviolet (UV) irradiation [9]
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