AHSG和IL-6基因多态性与子宫内膜异位症相关性的研究

目的:研究α2-HS糖蛋白(AHSG)基因第七个外显子中SacI位点和白细胞介素-6(IL-6)基因调控区-572位点的多态性与育龄妇女子宫内膜异位症遗传易感性的关系。方法:采用病例对照研究的方法,以98例子宫内膜异位症患者与99名健康成年女性外周血白细胞为样本,应用聚合酶链反应-限制性片段长度多态性技术检测两组的AHSG基因第七个外显子中SacI和白细胞介素-6基因启动子-572位点多态性,比较两组各自的基因型和等位基因的分布频率。结果:IL-6基因调控区-572位点的CC、CG和GG基因型在子宫内膜异位症患者中分别为55·10%、42·86%、2·04%,在健康成年女性中分别为70·71%、28·28%、1·01%。两组的分布频率差异有显著性。AHSG基因第七个外显子SacI位点的GG、GC和CC基因型在子宫内膜异位症患者中分别为32·65%、57·14%、10·20%,在健康成年女性中分别为74·75%、23·23%、2·02%。两组的分布频率差异有显著性。结论:①IL-6基因调控区及AHSG基因第七个外显子中SacI位点的基因多态性与子宫内膜异位症的发病具有一定程度的相关性;②IL-6中C/C及AHSG中G/G均为子宫内膜异位症的保护基因;③两基因变异在子宫内膜异位症的发病中可能有协同作用。

Distribution of interleukin -6 promoter region and AHSG gene polymorphism in patients with endometriosis

Objective:To detect the distribution of polymorphism at Sac I site G/C in the seventh extron of AHSG gene and IL-6 promoter region -572 CG in patients with endometriosis and normal controls.Methods:Interleukin-6 gene promoter region and Sac I site in the seventh extron of AHSG gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism in patients with endometriosis (n=98) and normal controls (n=99).Results:To IL-6 promoter region -572, the frequencies of CC,CG and GG genotypes were 55.10%,42.86% and 2.04% in patients with endometriosis, while 70.71%, 28.28% and 1.01% in normal controls. A significant difference was seen in the distribution frequency in two groups; To Sac I site G/C in the seventh extron of AHSG gene, the frequencies of GG, GC and CC genotypes were 32.65%, 57.14% and 10.20% in patients with endometriosis, while 74.75%, 23.23% and 2.02% in normal controls. A significant difference was seen in the distribution frequency in the two groups.Conclusion:The distribution frequency of interleukin-6 genotype and AHSG gene have something to do with morbility of endometriosis; Genotypes C/C in IL-6 gene and G/G in AHSG gene may have a protective effect against endometriosis; There may exist some interaction between polymorphisms of IL-6 gene and AHSG gene in the pathogenesis of endometriosis.