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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 investigate the effect of the interaction between RANTESSNP and its receptor CCR5Δ32 on the pathogenesis of SLE. Methods A total of 146 confirmed SLE patients and 159 normal controls were collected. The frequencies of SNP and its receptor CCR5Δ32 mutation in RANTES promoter region were detected by PCR-RFLP. Results The frequency of co-occurrence of RANTES-403G / G, -28C / C and CCR5 / CCR5 was 72.6% and 58.5% (P <0.01, OR = 1.88) in case group and control group respectively. The distribution of haplotype III (RANTES-403A, -28C) was significantly different between the two groups (11.5% vs. 16.5%, P <0.05). The actual frequency of haplotype IV (RANTES-403A, -28G) in case group was 0.9% higher than the theoretical frequency of 0.3% (P <0.05). The frequency of allele A mutation in RANTES-403 locus with renal impairment group was lower than that without renal damage group and control group (1.49% vs 15.62%, 1.49% vs 17.9%, both P <0.05). RANTES-28 locus mutation allele G, mutation allele CCR5Δ32 frequency distribution in the three groups was no significant difference. Conclusion There is a linkage disequilibrium between the two SNPs of RANTES and the interaction between SNP and CCR5 at RATNES site. Meanwhile, individuals carrying RANTES-403G / G, -28C / C and CCR5 / CCR5 genotypes may be more susceptible to SLE. RANTES-403 sites may be related to renal damage in SLE.