中华皮肤科杂志 ›› 2004, Vol. 37 ›› Issue (1): 18-21.

• 论著 • 上一篇    下一篇

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

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   

  1. 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
  • 收稿日期:2003-01-16 出版日期:2004-01-15 发布日期:2004-01-15
  • 基金资助:
    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)

Gene Mutation of RANTES and CCR5 in Systemic Lupus Erythematosus

YE Dong-qing1, YANG Shi-gui1, LI Xiang-pei2, HU Yi-song1, YIN Jing1, ZHANG Guo-qing1, ZHU Ji-min1, CHEN Dong-zhou1   

  1. Department of Epidemiology, School of Public Health, Anhui Medical University, Hefei 230032, China
  • Received:2003-01-16 Online:2004-01-15 Published:2004-01-15

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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。

关键词: 多态性,单核苷酸, 基因频率, RANTES, 红斑狼疮,系统性, 受体,CCR5

Abstract: 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). Conclusion 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.

Key words: Polymorphism, single nucleotide, Gene frequency, RANTES, Lupus erythematosus, systemic, Recptors, CCR5