DNA修复基因XRCC1单核苷酸多态性与SLE的相关性

Correlation between single nucleotide polymorphism of the DNA repair gene XRCC1 and systemic lupus erythematosus

目的分析中国汉族人群SLE患者与健康对照人群中DNA修复基因X线修复交叉互补基因1(XRCC1)的单核苷酸多态性(SNP)分布,探讨其对SLE易感性的影响及与临床表现、实验室指标的关联程度。方法用等位基因特异性PCR(AS-PCR)检测39例中国汉族SLE患者和40例中国汉族健康人的XRCC1基因多态位点Arg194Trp、Arg280His和Arg399G1n的SNP型别。结果 SLE组XRCC1多态位点Arg399G1n等位基因和基因型频率分布与健康人对照组比较具有显著性差异(P<0.05)。XRCC1多态位点Arg194Trp与SLE患者的血液系统损害及抗SS-A抗体的存在相关(P<0.05)。结论 XRCC1基因SNP与SLE发生及临床表现和自身抗体可能相关。

Objective To analyze the prevalence of single nucleotide polymorphisms of X-ray repair cross-complementing 1（XRCC1） gene in Chinese Han patients with systemic lupus erythematosus and explore the correlation between SNP frequency of XRCC1 allelic haplotypes and the susceptibility for SLE as well as clinical or laboratory features.Methods The polymorphic sites of SNP in XRCC1 gene,Arg194Trp,Arg280His and Arg399Gln,in 39 patients with SLE and 40 randomly selected unrelated healthy controls of Chinese Han population were detected by allele-specific PCR polymerase chain reaction（AS-PCR）.Results The allele frequency of Arg399G1n,the polymorphic sites of SNP in XRCC1 gene,were significantly different between the groups of SLE and controls（P 0.05）.The allele frequencies of Arg194Trp,correlated with the detectable autoantibodies and the damages of hematological system in SLE patients.Conclusion SNP of XRCC1 showed correlation with the occurrences of SLE and its clinical features.