Results
| PMID | 15861041 |
| Gene Name | GSTM1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | CYP1A1 (6235T>C) polymorphism and GSTM1, GSTT1 null mutations |
| Population size | 525 |
| Population details | 525 (310 women with laparoscopically proven endometriosis (rAFS III=101; IV=209), 215 women without endometriosis) |
| Sex | Female |
| Associated genes | GSTM1, GSTT1, CYP1A1 |
| Other associated phenotypes |
Endometriosis |
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Pharmacogenet Genomics. 2005 Mar;15(3):167-72. Babu, K Arvind| Reddy, N G Pavankumar| Deendayal, Mamata| Kennedy, Stephen| Shivaji, S Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad - 500 007, India. OBJECTIVE(S): Studies on association between endometriosis and various phase I and phase II detoxification genes such as glutathione S-transferase M1 and theta 1 (GSTM1 and GSTT1) and cytochrome P450 (CYP1A1) have produced inconsistent results possibly because of ethnic differences. The present study was undertaken to investigate the frequency of the CYP1A1 (6235T>C) polymorphism and GSTM1, GSTT1 null mutations in a South Indian women's population with and without endometriosis. METHODS: The frequencies of variants were studied in 310 women with laparoscopically proven endometriosis (rAFS III=101; IV=209) and 215 women without endometriosis using the polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: The GSTM1 null deletion showed significant association (P=0.028) with endometriosis. No significant difference was found in the frequencies of the GSTT1 null deletion in cases and controls. The frequencies of the variant CYP1A1 homozygous and heterozygous alleles in the cases were 9% and 44.2% against 14.4% and 42.3% in the controls. Further, we observed a considerable difference in the GSTM1 null deletion frequency in this population when compared with other populations of the world. CONCLUSIONS: We observed an association between endometriosis and the GSTM1 null deletion, but not with GSTT1 null deletions or the CYP1A1 MspI polymorphism in South Indian women. Mesh Terms: Adolescent| Adult| Alleles| Cytochrome P-450 CYP1A1/*genetics| DNA Primers/chemistry| Endometriosis/*genetics/*pathology| Female| Gene Deletion| Genotype| Glutathione Transferase/*genetics| Heterozygote| Homozygote| Humans| India| Polymerase |
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