RANTES及其受体CCR5基因间的交互作用与系统性红斑狼疮相关性分析  

Gene Mutation of RANTES and CCR5 in Systemic Lupus Erythematosus

作　　者：叶冬青[1] 杨仕贵[1] 李向培[2] 胡以松[1] 尹婧[1] 张国庆[1] 朱继民[1] 陈东周[1] 

机构地区：[1]安徽医科大学流行病与卫生统计学系,合肥230032 [2]安徽省立医院风湿科

出　　处：《中华皮肤科杂志》2004年第1期18-21,共4页Chinese Journal of Dermatology

基　　金：安徽省教育厅重点科研项目(2002kj175ZD);安徽省高等学校自然科学基金(2000J1113);安徽省自然科学基金资助(98437231)

摘　　要：目的探讨RANTESSNP及其受体CCR5Δ32突变之间交互作用对SLE发病的影响。方法收集146例确诊的SLE患者和159例正常人对照。通过PCR-RFLP方法检测研究对象RANTES启动区SNP及其受体CCR5Δ32突变频率。结果RANTES-403G/G、-28C/C和CCR5/CCR5同时出现的频率在病例组和对照组中分别为72.6%,58.5%(P<0.01,OR=1.88)。单体型Ⅲ(RANTES-403A,-28C)在两组中的分布差异有显著性(11.5%比16.5%,P<0.05)。病例组单体型IV(RANTES-403A,-28G)实际频率0.9%高于理论频率0.3%(P<0.05)。有肾损害组RANTES-403位点突变等位基因A频率低于无肾损害组和对照组(1.49%比15.62%,1.49%比17.9%,均P<0.05)。RANTES-28位点突变等位基因G、突变等位基因CCR5Δ32频率在3组间分布差异无显著性。结论RANTES两个SNPs存在着连锁不平衡,RATNES二位点SNP及CCR5基因之间存在交互作用,同时携带RANTES-403G/G,-28C/C,CCR5/CCR5基因型的个体可能更易患SLE。RANTES-403位点可能与SLE肾损害有关。Objective To evaluate the gene mutation of RANTES and CCR5 in SLE and its significance. Methods One hundred and forty-six definitive SLE patients and 159 controls were collected. SNPs of RANTES promoter and polymorphism of CCR5 were performed by PCR or PCR/RFLP assay, and further confirmed by direct DNA sequencing. Results The frequence of RANTES-403G/G compounded with 28C/C and CCR5/CCR5 was significantly different between SLE and control groups (72.6% vs 58.5%, P < 0.05, OR = 1.88). The frequence of RANTES-403A, -28C haplotype was different between two groups (11.5% vs 16.5%, P < 0.05). Frequency of the mutation allele RANTES-403A in renal damage group was lower than that of non-renal damage group and of control(1.49% vs 15.62%, 1.49% vs 17.9%, P < 0.05). There was no significantly difference in frequency of the mutation allele RANTES-28C and CCR5Δ32 among renal damage group, non-renal damage group and control (P > 0.05). Conclusions These results indicate that the two SNPs are linkage disequilibrium. Interaction of two SNPs in RANTES and CCR5 is related with SLE. RANTES-403G/G compounded with 28C/C and CCR5/CCR5 may be one of risk factors of SLE. RANTES-403A is probably related with renal damage of SLE.

关 键 词：RANTES RANTES受体 CCR5基因 交互作用 系统性红斑狼疮 基因频率 系统性红斑狼疮 

分 类 号：R593.241[医药卫生—内科学]