GSTM1, GSTT1 and CYP1A1 detoxification gene polymorphisms and their relationship with advanced stages of endometriosis in South Indian women

K Arvind Babu, Babu KA, N G Pavankumar Reddy, Pavankumar N.G. Reddy, Reddy NG, Deendayal M, Mamata Deendayal, Stephen Kennedy, Kennedy S, S. Shivaji, Shivaji S
Pharmacogenetics and genomics · 2005 · vol. 15(3) , pp. 167–172 · doi:10.1097/01213011-200503000-00005 · PMID:15861041 · W2075539898
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This study investigated GSTM1, GSTT1, and CYP1A1 gene variants in South Indian women and found an association between GSTM1 null deletion and endometriosis.

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This study investigated the association between specific detoxification gene polymorphisms and endometriosis in a South Indian population comprising 310 women with laparoscopically confirmed disease and 215 controls. The researchers analyzed frequencies of GSTM1, GSTT1, and CYP1A1 variants using PCR-RFLP methods to determine if these genetic markers correlated with the presence or advanced stages of the condition. Results indicated a significant association between endometriosis and the GSTM1 null deletion, whereas no such links were found for GSTT1 null deletions or CYP1A1 polymorphisms. This paper is centrally about endometriosis — specifically examining genetic susceptibility factors related to detoxification pathways in patients with advanced-stage lesions.

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Abstract

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.
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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.

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Condition tags

endometriosis

MeSH descriptors

Cytochrome P-450 CYP1A1 Endometriosis Endometriosis Glutathione Transferase Polymorphism, Genetic Adolescent Adult Alleles Cytochrome P-450 CYP1A1 DNA Primers DNA Primers Endometriosis Female Gene Deletion Genotype Glutathione Transferase Heterozygote Homozygote Humans India

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