IL-6634C／G基因多态性与子宫内膜异位症易感性的相关研究

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

目的探讨中国南方汉族妇女白细胞介素-6（interleukin-6，IL6）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Eros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-6634C／G基因SNP。结果儿-6634C／G位点等位基因、携带等位基因G及其基因型的分布在Eros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Eros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-6634C／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-6634C／G位点SNP与Ems遗传易感性存在相关性。

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 Eros 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 Eros 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.