子宫内膜异位症合并不孕与HLA-DQA1、DRB1的相关性

Association of endometriosis complicated by infertility with HLA -DQA 1 and DRB1 alleles

目的探讨ＨＬＡ－ＤＱＡ１、ＤＲＢ１等位基因与子宫内膜异位症患者不孕的相关性。方法用聚合酶链反应－序列特异 性引物（ＰＣＲ－ＳＳＰ）对１０２例经腹腔镜或外科手术证实的子宫内膜异位症患者（其中３５名患者合并不孕）进行 ＨＬＡ－ＤＱＡ１、ＤＲＢ１等位基因的基因分型并与对照组进行比较。结果子宫内膜异位症患者ＨＬＡ１－ＤＱＡ１＊０４０１等位基因 频率显著高于正常对照，ＨＬＡ１＊０３０１等位基因频率显著低于正常对照。其中，合并不孕者 ＨＬＡ１－ＤＱＡ１＊０３０１、 ＤＲＢ１＊０７、ＤＲＢ１＊０８／１２等位基因频率低于正常对照，ＨＬＡ １－ＤＲＢ１＊０７、ＤＲＢ１＊０８／１２等位基因频率低于无合并不孕者；而 无合并不孕者ＨＬＡ１＊０４０１等位基因频率显著高于正常对照，合并不孕者ＨＬＡ１＊０４０１等位基因频率与对照组无显著差 异。结论ＨＬＡ－ＤＱＡ１＊０３０１，ＨＬＡ－ＤＲＢ１＊０７＊０８／１２可能与子宫内膜异位症的不孕机制相关，ＨＬＡ１＊０４０１与子宫内膜异位 症的发病机制相关，但不参与子宫内膜异位症的不孕机制。

Objective To understand the correlation between the genotypes of HLA-DQA 1, DRB1 alleles and endometriosis complicated with infertility. Methods The allelic types of HLA -DQA 1 and DRB1 were examined by polymerase chain reaction with single specific primers (PCR-SSP) in 102 patients with confirmed endometriosis (35 of whom were complicated by infertility) and 44 healthy female subjects (control group), and the results of the 2 groups were compared. Results The frequency of HLA -DQA 1 *0401 allele of endometriosis group was significantly higher than that of the control group, while the frequency of HLA-DNA *0301 turned out to be the contrary. In endometriosis group, patients with infertility had lower frequencies of HLA 1-DQA l*0301, DRB*07 and DBR1*08/12 than the control group did, but had higher frequencies of DRB*07 and DBR 1 *08/12 than those without infertility, who were shown to have higher frequency of HLA l*0401 than the control subjects did. Significant difference in the frequencies of HLA 1*0401 was not observed between infertile patteds and control subjects. Conclusion HLA 1-DQA 1 *0301, HLA 1-DQA 1 *07,*08/12 might be related with infertility in endometriostic condition. HLA 1-DQA 1 *0401 might be responsible for the pathogenesis of endometriosis, but not related with infertility in endometriotic condition.