Mao Ting, Zong Li-li, Wang Yu-feng, Zhao Xin, Fu Yong-gui, Zeng Jun, Rao Xing-qiang
Department of Gynecology and Obstetrics, Southern Medical University, Guangdong, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):555-8. doi: 10.3760/cma.j.issn.1003-9406.2011.05.019.
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.
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.
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).
The present study demonstrated significant association between the SNP of IL-6 634C/G and genetic susceptibility to Ems in south Han Chinese women.
探讨白细胞介素6基因（IL-6）启动子区域634C/G（rs1800796）单核苷酸多态性（SNP）与中国南方汉族女性子宫内膜异位症（Ems）遗传易感性的关系。
采用基于荧光定量PCR的高分辨率熔解曲线分析（HRM）方法，对432例Ems患者和499例对照女性进行病例对照研究，以评估IL-6 634C/G的SNP。
Ems患者与对照女性在IL-6 634C/G等位基因、是否携带G等位基因及基因型分布方面存在统计学差异（P值分别为0.032、0.014和0.045）。C等位基因使Ems风险增加1.057倍，而G等位基因使Ems风险降低0.835倍。携带G等位基因使Ems风险降低0.822倍，未携带G等位基因则使Ems风险增加1.143倍。与CC基因型相比，CG基因型的Ems风险降低0.704倍（95%可信区间：0.533 - 0.931）。Ems患者与对照女性在是否携带G等位基因分布上无显著差异（P = 0.729）。
本研究表明IL-6 634C/G的SNP与中国南方汉族女性Ems的遗传易感性之间存在显著关联。
