Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 20504102
Gene Name GSTM1
Condition Endometriosis
Association Associated
Population size 320
Population details 320 (120 patients, 200 healthy volunteers)
Sex Female
Associated genes GSTM1
Other associated phenotypes Endometriosis
Association between GSTM1 gene polymorphism in Iranian patients with endometriosis.

Gynecol Endocrinol. 2011 Mar;27(3):185-9. doi: 10.3109/09513590.2010.488775. Epub

Hosseinzadeh, Zahra| Mashayekhi, Farhad| Sorouri, Ziba Zahiri

Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Iran.

Endometriosis is defined as a condition in which tissue histologically similar to the endometrium is found outside the uterine cavity. It develops mostly in women of reproductive age. Endometriosis shows a drastically elevated frequency in industrial areas. GSTM1 gene encodes a major detoxification phase enzyme that helps detoxify various xenobiotics. Deficiency in GSTM1 activity is caused by homozygous deletion of GSTM1 and leads to various biological consequences. There are significant interethnic differences in GSTM1 allele frequencies. In this study, the relationship between GSTM1 genotypes and endometriosis in an Iranian population was investigated. The study included 120 patients and 200 healthy volunteers. Genomic DNA was prepared from peripheral blood leukocytes. Genotypes and allele frequencies were determined in patients and healthy controls using polymerase chain reaction (PCR). The GSTM1 null genotype was significantly associated with the increased risk of endometriosis (OR=3.75, 95% confidence interval (CI)=2.42-6.45, P<0.0001). The prevalence of GSTM1-null genotype in the patient group was 72.5%, compared to 40% in the control group. The proportion of GSTM1A/B genotype was higher in controls as compared to cases (20% vs. 2.5%). This study suggests that GSTM1 null genotype is associated with higher risk of endometriosis; these observations, however, requiring further confirmation in a larger multi-ethnic study.

Mesh Terms: Adolescent| Adult| Chi-Square Distribution| DNA/chemistry/genetics| Endometriosis/enzymology/*genetics/pathology| Female| Genetic Predisposition to Disease| Genotype| Glutathione Transferase/*genetics| Humans| Iran| Polymerase Chain Reaction|