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目的:探讨巨噬细胞移动抑制因子(MIF)基因启动子区-794CATT微卫星多态性与子宫内膜异位症的遗传易感性的相关性。方法:应用聚合酶链反应(PCR)分析技术及DNA测序技术,检测广东籍汉族子宫内膜异位症患者43例(内异症组)及非子宫内膜异位症患者44例(对照组)MIF基因启动子区-794CATT微卫星多态性,并进行MIF基因分型。结果:①内异症组MIF基因启动子区-794CATT基因型(5/5,5/6,5/7,6/6,7/7)分布频率分别为51.2%、11.6%、4.7%、30.2%、2.3%;对照组(44例)MIF基因启动子区-794CATT基因型(5/5,5/6,5/7,6/6,6/7,7/7)的分布频率分别为25.0%、11.4%、2.3%、50.0%、4.5%、6.8%。MIF基因启动子区-794CATT(5/5)基因型的分布频率两组间比较差异具有统计学意义,内异症组高于对照组(P=0.015,OR=3.143,95%CI=1.281～7.713)。②MIF基因启动子区-794CATT(5,6,7)等位基因型在内异症组中的分布频率分别为59.3%、36.0%、4.7%;在对照组中分别为31.8%、58.0%、10.2%;MIF基因启动子区-794CATT(5)等位基因型两组间比较差异具有统计学意义,内异症组高于对照组(P=0.038,OR=3.122,95%CI=1.688～5.774)。结论:MIF基因启动子区-794CATT微卫星多态性与广东汉族人群子宫内膜异位症的遗传易感性相关,CATT(5/5)基因型及CATT(5)等位基因型可能是其易感基因型。
Objective: To investigate the association between the microsatellite polymorphism of -794CATT in the promoter region of macrophage migration inhibitory factor (MIF) gene and the genetic predisposition of endometriosis. Methods: Polymerase chain reaction (PCR) analysis and DNA sequencing were used to detect 43 cases of endometriosis in Han nationality in Guangdong and 44 cases of non-endometriosis (control group ) MIF gene promoter region -794CATT microsatellite polymorphism, and MIF genotyping. Results: The distribution frequency of -794CATT (5 / 5,5 / 6,5 / 7,6 / 6,7 / 7) in MIF gene promoter region of endometriosis group were 51.2%, 11.6%, 4.7% 30.2% and 2.3%, respectively. The frequencies of the -794CATT genotypes (5 / 5,5 / 6,5 / 7,6 / 6,6 / 7,7 / 7) in the MIF gene promoter region of the control group 25.0%, 11.4%, 2.3%, 50.0%, 4.5%, 6.8%. The distribution frequency of -794CATT (5/5) in MIF gene promoter region was significantly different between two groups (P = 0.015, OR = 3.143, 95% CI = 1.281 ~ 7.713). The frequencies of-794CATT (5,6,7) alleles in the promoter region of MIF gene were 59.3%, 36.0% and 4.7% in the endometriosis group, respectively, 31.8% and 58.0% in the control group, 10.2%; MIF gene promoter-794CATT (5) allele had significant difference between the two groups, the endometriosis group was higher than the control group (P = 0.038, OR = 3.122, 95% CI = 1.688 ~ 5.774). CONCLUSION: The microsatellite polymorphism of -794CATT in MIF gene promoter region is associated with the genetic predisposition of endometriosis in Guangdong Han population. CATT (5/5) genotype and CATT (5) allele may be related to Susceptible genotypes.