Baranova H, Bothorishvilli R, Canis M, Albuisson E, Perriot S, Glowaczower E, Bruhat M A, Baranov V, Malet P
Laboratoire d'Histologie-Embryologie-Cytogénétique; Faculté de Médecine, Université d'Auvergne, Clermont-Ferrand, France.
Mol Hum Reprod. 1997 Sep;3(9):775-80. doi: 10.1093/molehr/3.9.775.
Endometriosis is a multifactorial disease with possible genetic predisposition and involvement of environmental factors in its pathogenesis. The genetic polymorphism of glutathione S-transferase M1 (GSTM1) gene, which codes for glutathione S-transferase 1, class mu foreign compound conjugating enzyme of phase II detoxification system, was studied by polymerase chain reaction from the blood spots in patients with different stages of endometriosis (n = 50) and in controls (n = 72) of French origin. A total of 86.0% of patients appeared to lack GSTM1 enzyme activity due to the presence of an extended deletion (GSTM1 0/0 genotype), compared with 45.8% in a control group (P < 0.0001), which was consistent with the frequency of GSTM1 deletion in French population. Moreover, the distribution of GSTM1-active genotypes was significantly different in patients and controls (P < 0.0001), as no patient with GSTM1A/B genotype, which is correlated with the highest activity of GSTM1 enzyme, has been found so far (18.1% in a control group). The unusually high frequency of homozygotes for the GSTM1 gene deletion among patients with endometriosis suggests a possible contribution of environmental toxins in the pathogenesis of this disease due to the absence or low activity of GSTM1 enzyme.
子宫内膜异位症是一种多因素疾病，其发病机制可能存在遗传易感性并涉及环境因素。谷胱甘肽S-转移酶M1（GSTM1）基因编码谷胱甘肽S-转移酶1，即II相解毒系统的μ类外来化合物结合酶，通过聚合酶链反应对不同阶段子宫内膜异位症患者（n = 50）和法国裔对照组（n = 72）血斑中的该基因多态性进行了研究。共有86.0%的患者由于存在延伸缺失（GSTM1 0/0基因型）而似乎缺乏GSTM1酶活性，而对照组这一比例为45.8%（P < 0.0001），这与法国人群中GSTM1缺失频率一致。此外，患者和对照组中GSTM1活性基因型的分布存在显著差异（P < 0.0001），因为迄今为止尚未发现与GSTM1酶活性最高相关的GSTM1A/B基因型患者（对照组中为18.1%）。子宫内膜异位症患者中GSTM1基因缺失纯合子的异常高频率表明，由于GSTM1酶的缺失或低活性，环境毒素可能在该疾病的发病机制中起作用。
