Department of Development and Regeneration, Organ Systems, Catholic University (KU) Leuven, Leuven, Belgium.
Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, New Haven, Connecticut, USA,
Gynecol Obstet Invest. 2019;84(6):575-582. doi: 10.1159/000500626. Epub 2019 Jun 11.
Endometriosis is a common disorder that affects 6-10% of reproductive age women. In a previous study, we demonstrated that a polymorphism in let-7 microRNA-binding site in the 3' untranslated region of the KRAS gene was found in 31% of subjects with endometriosis resistant to medical therapy. This polymorphism was now tested in a large, case-control study.
Peripheral blood or peritoneal biopsies from 2,077 European subjects with or without endometriosis and known infertility were tested for the presence of the variant allele using polymerase chain reaction.
Histologically proven endometriosis was found in 1,140 subjects, while 937 subjects were disease free. Variant allele carrier rates in subjects with and without endometriosis were 15.7 and 15.1%, respectively. No association between the variant KRAS allele and stage of the disease, age at surgery, body mass index, or type of infertility was identified.
A germ-line single-nucleotide polymorphism in the let-7 microRNA-binding site of the KRAS gene was not associated with sporadic endometriosis in an infertile Caucasian population in this large case-control study. However, it remains possible that this gene variant may be a marker of treatment resistance. Further studies on the role of this polymorphism in endometriosis are needed.
子宫内膜异位症是一种常见的疾病,影响着 6-10%的育龄妇女。在之前的研究中,我们发现 KRAS 基因 3'非翻译区 let-7 微 RNA 结合位点的一个多态性存在于 31%对药物治疗有抗药性的子宫内膜异位症患者中。现在在一项大型病例对照研究中对该多态性进行了测试。
对 2077 名有或没有子宫内膜异位症和已知不孕的欧洲患者的外周血或腹膜活检进行聚合酶链反应,以检测变异等位基因的存在。
在 1140 名组织学证实患有子宫内膜异位症的患者中发现了该变体等位基因,而在 937 名无疾病的患者中也发现了该变体等位基因。患有和不患有子宫内膜异位症的患者的变异 KRAS 等位基因携带率分别为 15.7%和 15.1%。在疾病分期、手术年龄、体重指数或不孕类型方面,变异 KRAS 等位基因与该疾病均无关联。
在这项大型病例对照研究中,在患有不孕的白种人群中,KRAS 基因 let-7 微 RNA 结合位点的种系单核苷酸多态性与散发性子宫内膜异位症无关。然而,这种基因变异可能是治疗耐药性的一个标志仍然是有可能的。需要进一步研究该多态性在子宫内膜异位症中的作用。