Glutathione S-transferase M1 gene polymorphism and susceptibility to endometriosis in a French population

Abstract

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.

Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis

“…Because other polymorphic sites may exist in these genes in the Japanese population, examination of a larger group of subjects will be necessary to clarify any possible associations with endometriosis. Others have investigated possible associations between genetic polymorphism and predisposition to endometriosis in a few genes encoding compound metabolic enzymes such as GSTM1, arylamine N-acetyltransferase 2 (NAT2), and galactose-1-phosphate uridyl transferase (GALT) (Baranova et al 1997;Cramer et al 1996). The present study was limited to the examination of AHR and AHRR polymorphisms in a Japanese population sample.…”

Implantation versus Infiltration: The Sampson versus the Endometriotic Disease Theory

“…The endometriotic cells were found to be different from those of the eutopic endometrium [43][44][45][46][47][48], and even the eutopic endometrium was found to be different in women with and without endometriosis [40,49,50]. These cellular differences, together with the hereditary [51][52][53] and genetic aspects [54][55][56][57] of endometriosis, which are well recognised, have been used to explain why endometriosis occurs in some women, that is, the onset of the disease, but not to explain the progression of the lesions, that is, to differentiate between implantation and progression.…”

Genetic polymorphisms in patients with endometriosis: an analytical study in Goiânia (Central West of Brazil)

“…This result is consistent with our findings since for those polymorphic genotypes we did not find a statistically significant association. Baranova et al (1997) found that 86% (43/50) patients in the endometriosis group had null-GSTM1 versus 45.8% subjects in the control group. Hadfield et al (2001) and Baxter et al (2001) have not confirmed the significant results by Baranova et al; however, they reported polymorphisms for 45 and 48% patients in the experimental group with null-GSTM1, respectively.…”