MIF基因多态性与剖宫产术后腹壁子宫内膜异位症遗传易感性相关性研究

目的：研究巨噬细胞移动抑制因子（MIF）启动子上游的rs2012133G/C、rs4822443A/G和rs4822446G/A位点基因多态性与剖宫产术后腹壁子宫内膜异位症易感性的关系。方法：收集60例经病理确诊的剖宫产术后腹壁子宫内膜异位症患者作为病例组，同期选取109例健康志愿者作为对照组，采用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）方法对MIF基因多态性进行分析，分析基因型的分布及其与剖宫产术后腹壁子宫内膜异位症发病风险的关系。结果：rs2012133G/C SNP的CC、CG、GG基因型频率在病例组和对照组2组中比较差异有统计学意义（P=0.032）；C、G等位基因频率分布2组比较差异有统计学意义（P=0.031）。与CG+CC基因型相比，携带GG基因型可明显增加子宫内膜异位症的发病风险（OR=2.284，95%CI：1.200～4.345）。而rs4822443A/G、rs4822446G/A SNP的基因型频率在病例组和对照组中的比较，差异无统计学意义（P＞0.05）。结论：MIF rs2012133G/C位点基因多态性与剖宫产术后腹壁子宫内膜异位症发生的易感性有关，GG基因型是子宫内膜异位症的易感基因型。

Correlation study of single nucleotide polymorphisms in macrophage migration inhibitory factor gene with the risk of abdominal wall endometriosis after cesarean section

Objective: To investigate whether polymorphisms of macrophage migration inhibitory factor (MIF) in promoter region (rs2012133G/C, rs4822443A/G and rs4822446G/A) are associated with hereditary susceptibility of abdominal wall endometriosis after cesarean section. Methods: Sixty patients with abdominal wall endometriosis after cesarean section were selected as case group and 109 healthy volunteers were collected as control group. The genotypes were detected by polymorphism chain reaction and restriction fragment length polymorphism analysis (PCR-RFLP). Results: There were statistical differences in genotype frequencies and allele frequencies between the case group and the control group (P=0.032; P=0.031) in rs2012133G/C site, GG genotype may markedly increase the risk of abdominal wall endometriosis after cesarean section (OR=2.284, 95%CI: 1.200～4.345). While no significant statistical differences could be found in rs4822443A/G, rs4822446G/A sites (P>0.05). Conclusion: The results suggest that MIF rs2012133G/C polymorphism is associated with abdominal wall endometriosis after cesarean section, GG genotype is the risk genotype.