Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 15299090
Gene Name GSTM1
Condition Endometriosis
Association Associated
Mutation GSTM1*null genotype, MPO-463*G/A
Population size 309
Population details 309 (150 patients with endometriosis, 159 patients without endometriosis)
Sex Female
Associated genes GSTM1, MPO
Other associated phenotypes Endometriosis
Glutathione S-transferase M1*null genotype but not myeloperoxidase promoter G-463A polymorphism is associated with higher susceptibility to endometriosis.

Mol Hum Reprod. 2004 Oct;10(10):713-7. Epub 2004 Aug 6.

Hsieh, Yao-Yuan| Chang, Chi-Chen| Tsai, Fuu-Jen| Lin, Cheng-Chieh| Chen, Jiun-Ming| Tsai, Chang-Hai

Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.

Glutathione S-transferase M1 (GSTM1), one member of the GST family, is responsible for metabolism of xenobiotics and carcinogens. Myeloperoxidase (MPO) plays an important role in the oxidation and activation of carcinogens and nitric oxide. Allelic variants of GSTM1 and MPO gene polymorphisms might impair detoxification function and increase the susceptibility to endometriosis. We aimed to investigate if these polymorphisms are useful markers for predicting endometriosis susceptibility. Women were divided into two groups: (i) endometriosis (n=150); (ii) non-endometriosis (n=159). Polymorphisms for GSTM1 and MPO were amplified by polymerase chain reaction and detected by electrophoresis after restriction digestion. The relative frequencies of the GSTM1*wild (+/+,+/0)/null (0/0) genotypes and MPO-463*G/A gene polymorphisms between both groups were compared. The distribution of GSTM1 polymorphisms was significantly different between the two groups. Proportions of GSTM1*wild/null alleles in both groups were: (i) 36.7/63.3%; (ii) 95/5% (P=0.001). In contrast, MPO-463 genotypes were not significantly different between the two groups. Proportions of MPO*A homozygote/heterozygote/G homozygote in both groups were: (i) 2.7/17.4/79.9% and (ii) 1.9/17/81.1% (P> 0.05). We conclude that the GSTM1*null genotype is associated with a higher risk of endometriosis development. MPO-463*G/A gene polymorphism is not related to the susceptibility of endometriosis.

Mesh Terms: Endometriosis/*genetics/pathology| Female| *Genetic Predisposition to Disease| Genotype| Glutathione Transferase/*genetics/metabolism| Humans| Peroxidase/*genetics/metabolism| *Polymorphism, Genetic| *Promoter Regions, Genetic| Taiwan|DA 2005/08/