白介素-10启动子基因多态性与系统性红斑狼疮相关性研究

Investigation of the Correlation between Interleukin-10 Promoter Polymorphisms and Systemic Lupus Erythematosus

目的研究白介素-10(IL-10)基因启动子区域IL-10-592、-819、-1082多态性与系统性红斑狼疮(SLE)的相关性。方法采用聚合酶链反应(PCR)技术结合限制性内切酶酶切分析法检测鄂、豫、渝、陕毗邻地区137例汉族SLE患者和122例正常对照组IL-10-592、-819、-1082基因多态性。结果①SLE患者组和正常对照组IL-10-592、-819基因型和IL-10-592/-819单倍型频率差异无显著性意义,但二者IL-10-1082基因型频率和等位基因频率差异有显著性意义(P<0.001)。②-592*A、-592*C分别与-819*T、-819*C连锁。③-819*T和-592*A基因型者好发于女性(P<0.05),且发病年龄偏小(即发病较早)(P<0.05),易出现肾脏损害(P<0.001)和浆膜炎(P<0.01);同样,-1082*A/-819*T/-592*A单倍型者也是如此,并具有统计学意义(分别为P<0.05、P<0.001、P<0.01)。结论①IL-10基因启动子与鄂、豫、渝、陕毗邻地区汉族SLE易感性有关。②IL-10启动子基因型与该地区汉族SLE患者某些临床表现相关,可作为判断预后的一个指标。

Objective To study the genetic association of interleukin-10 （IL-10） promoter polymorphisms in the Han nationality patients with systemic lupus erythematosus （SLE）. Methods DNA was extracted from 137 Han nationality SLE patients and 122 matched controls in adjacent district of Hubei, Henan,Shanxi, Chongqin. The IL-10 promoter region between positions -533 and -1120 was amplified by polymerase chain reaction,and polymorphisms were detected by restriction-enzyme cleavage, Results There was significant difference in the allele or haplotype frequencies of -1082（P 〈0. 001 ）,but -592 and -819,between SLE patients and controls. The ＊ A and ＊ C alleles at the -592 position were linked to the ＊ T and ＊ C alleles at the -819 position,respectively. However,when clinical features were examined by chisquare analysis,the ＊ A allele at the -592 position and ＊ T alleles at the -819 position were significantly associated with not only female patients （P 〈 0.05 ） but also early onset （P 〈 0, 05 ） ,lupus nephritis （P 〈0.001 ） ,serositis （P 〈0.01 ）. Similarly,the haplotype -1082 ＊ A/-819 ＊ T/-592 ＊ A was also associated with them （P 〈 0.05, 〈 0.05, 〈 0,001, 〈 0.01, respectively）. Conclusion IL-10 promoter polymorphisms are associated with the susceptibility to the development of SLE, in Han nationality SLE patients in adjacent district of Hubei, Henan,Shanxi ,Chongqin. IL-10 genotypes are strongly associated with certain clinical manifestations of SLE and may have a role in predicting disease prognosis.