Hadfield R M, Manek S, Weeks D E, Mardon H J, Barlow D H, Kennedy S H
Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Mol Hum Reprod. 2001 Nov;7(11):1073-8. doi: 10.1093/molehr/7.11.1073.
An association between endometriosis and the glutathione S-transferase (GST) M1 null mutation has been reported in French and Slavic populations. We aimed to replicate this association of endometriosis in a UK population, and to test for association with the GSTT1 null mutation or the cytochrome P450 (CYP) 1A1 MspI polymorphism. We genotyped 148 women each with endometriosis (sporadic cases, n = 91; familial cases, n = 57), a population control of 95 male blood donors, and a control group of 53 women with a normal pelvis at hysterectomy. No significant differences were found between cases and controls in the frequencies of the GSTM1 and GSTT1 null mutations, or the CYP1A1 MspI polymorphism. However, the combination of the GSTM1 null genotype and the CYP1A1 MspI polymorphism was associated with a small increased risk of endometriosis, and this warrants further investigation. We also tested for linkage to the chromosome 1p13 region, to which GSTM1 has been mapped, in 52 sister-pairs with stage III-IV disease using three highly polymorphic microsatellite markers. However, there was no evidence of linkage, suggesting that this region may not be implicated in disease susceptibility.
在法国和斯拉夫人群中，子宫内膜异位症与谷胱甘肽硫转移酶（GST）M1无效突变之间的关联已有报道。我们旨在在英国人群中复制这种子宫内膜异位症的关联，并检测与GSTT1无效突变或细胞色素P450（CYP）1A1 MspI多态性的关联。我们对148名患有子宫内膜异位症的女性（散发病例，n = 91；家族病例，n = 57）、95名男性献血者组成的人群对照组以及53名子宫切除时盆腔正常的女性对照组进行了基因分型。在GSTM1和GSTT1无效突变的频率或CYP1A1 MspI多态性方面，病例组和对照组之间未发现显著差异。然而，GSTM1无效基因型与CYP1A1 MspI多态性的组合与子宫内膜异位症风险的小幅增加相关，这值得进一步研究。我们还使用三个高度多态性微卫星标记，对52对患有III-IV期疾病的姐妹对进行了与1p13染色体区域的连锁检测，GSTM1已被定位到该区域。然而，没有连锁的证据，这表明该区域可能与疾病易感性无关。
