白细胞介素10基因多态性与系统性红斑狼疮和狼疮肾炎的关系

Association of interleukin-10 geue polymorphism with systemic lupus erythematosus and lupus nephritis

目的研究白细胞介素10（IL-10）基因启动子区-3575和-2763位点多态性在中国南方地区汉族人群中的分布及其与系统性红斑狼疮（SLE）和狼疮肾炎（LN）的关系。方法符合1982年美国风湿病学会SLE诊断标准的SLE患者103例，包括男13例，女90例，其中62例为LN。健康对照组110例，其中男21例，女89例。全部对象均为无血缘关系的中国南方地区汉族人群。应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对上述对象进行IL-10基因启动子区-3575和-2763位点多态性检测。结果IL-10基因启动子区-3575位点多态性在中国南方地区汉族人群中普遍存在。与健康对照组比较，SLE患者IL-10基因启动子区-3575位点TT基因型频率和T等位基因频率均明显降低（P〈0．05）。与同性别健康对照者比较，女性SLE患者IL-10基因启动子区-3575位点TT基因型频率、T等位基因频率和携带者频率分布均明显降低（P〈0．05）。LN患者和健康对照组IL-10基因启动子区-3575位点各基因型频率、等位基因频率和携带者频率分布等差异均无统计学意义。在SLE患者和健康对照者均未发现IL-10基因启动子区-2763位点多态现象，均为AA基因型。结论IL-10基因启动子区-3575位点多态性与SLE有关，而与LN无关。IL-10基因可能是中国南方汉族人SLE的易感基因。

Objective To investigate the association of interleukin-10 （IL-10） gene promoter -3575 and -2763 polymorphism with systemic lupus erythematosus （SLE） and lupus nephritis （LN）of Han nationality people in Southern China. Methods One hundred and three patients （13 male and 90 female） with SLE, including 62 with LN fulfrilled the American College of Rheumatology 1982 revised criteria for SLE and 110 healthy ethnically matched controls （21 male and 89 female） were enrolled. All of the subjects were from Southern China and consented to participate in the study. Blood samples for DNA extraction from all subjects were collected in EDTA tube. Genomic DNA was extracted according to the standard isolation procedures. IL-10 promoter -3575 and -2763 polymorphisms were typed by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results IL-10 promoter -3575 polymorphism was found widely in above people. All genotype frequencies of IL-10 promoter -3575 were in Hardy- Weinberg equilibrium. Compared with the healthy controls, the frequencies of Tr genotype and T allele of IL-10 promoter -3575 were significantly lower in the patients （P〈0.05）, but the frequencies of AA genotype, AT genotype and phenotype were not significantly different between patients and controls （P〉0.05）. There were significant differences of IL-10 promoter -3575 TT genotype, allele and phenotype frequencies between female SLE patients and female controls （P〈 0.05）. There were no significant differences of IL-10 promoter -3575 genotype, allele and phenotype frequencies between the patients with LN and the controls （P〉0.05）. No IL-10 promoter -2763 polymorphism was found and the genotypes were AA genotype in all patients and controls.Conclusion IL-10 promoter -3575 polymorphism appears to be associated with susceptibility to SLE but not to LN patients in Southern China.