IL-6634C/G基因多态性与子宫内膜异位症易感性的相关研究

目的 探讨中国南方汉族妇女白细胞介素-6(interleukin-6,IL-6)基因启动子区634C/G (rs1800796)位点单核苷酸多态性(single nucleotide polymorphism,SNP)与子宫内膜异位症(endometriosis,Ems)遗传易感性的相关性.方法 收集经手术证实的432例Ems患者和499名对照人群外周血,采用荧光定量PCR为基础的高分辨率熔解曲线分析(high resolution melting,HRM)技术检测IL-6 634C/G基因SNP.结果 IL-6 634C/G位点等位基因、携带等位基因G及其基因型的分布在Ems组和对照组间差异均有统计学意义(P=0.032、0.014和0.045),其中等位基因C使Ems发病风险提高1.057倍,而等位基因G使其降低0.835倍;携带等位基因G使Ems发病风险降低0.822倍,而不携带使其提高1.143倍;CG与CC基因型相比患Ems的危险度低0.704倍(95％CI:0.533～0.931).但IL-6 634C/G位点携带等位基因C的分布在两组间差异无统计学意义(P=0.729).结论 中国南方汉族妇女IL-6 634C/G位点SNP与Ems遗传易感性存在相关性.

Association of the IL-6 gene 634C/G polymorphism with susceptibility to endometriosis

Objective To investigate the association of interleukin 6 gene (IL-6) promoter region 634C/G (rs1800796) single nucleotide polymorphism (SNP) with the genetic susceptibility to endometriosis (Ems) in south Han Chinese women.Methods A case-control study was performed in 432 Ems patients and 499 control women to evaluate the SNP of IL-6 634C/G by using a fluorescent quantitative PCR-based high resolution melting (HRM) method.Results There were statistical significances in the IL-6 634C/G alleles,whether or not to carry allele G and genotype distributions between Ems patients and control women (P=0.032,0.014 and 0.045,respectively).Allele C enhanced the risk of Ems 1.057 times while allele G reduced the risk of Ems 0.835 time.Carrying allele G reduced the risk of Ems 0.822 time,whereas not carrying allele G enhanced the risk of Ems 1.143 times.Compared with genotype CC,the risk of Ems with genotype CG reduced 0.704 time (95％ CI:0.533-0.931).There was no significant difference in whether or not carrying allele G distribution between Ems patients and control women (P=0.729).Conclusion The present study demonstrated significant association between the SNP of IL-6 634C/G and genetic susceptibility to Ems in south Han Chinese women.