Objective:Endometriosis is inherited as a complex trait, which means that multiple susceptibility genes interact with each other and with environmental factors to produce the phenotype. We investigated the frequency of glutathione S-transferase M1 and T1 (GSTM1 and GSTT1) null mutations in women with endometriosis in a Japanese population.
Methods:One hundred fourteen unrelated women with endometriosis were enrolled. Samples of umbilical cord blood obtained from 179 female newborn infants were used as population controls. Genomic DNA isolated from endometriosis patients and controls were subjected to multiple polymerase chain reactions to determine the GSTM1 and GSTT1 genotypes.
Results:There were no significant differences in the frequencies of the GSTM1 (P = .83, odds ratio 0.95) and GSTT1 (P = .24, odds ratio 0.75) null mutations between endometriosis patients and controls. The endometriosis group was divided into a subgroup of stage IV disease only, but no statistically significant differences were observed in the frequency of the GSTM1 null mutation (P = .88, odds ratio 0.96, 95% confidence interval 0.57-1.63) and the GSTT1 null mutation (P = .33, odds ratio 0.77, 95% confidence interval 0.45-1.30) between any of these groups and the controls.
Conclusion:These findings suggest that the GSTM1 and GSTT1 null mutations are not likely to be associated with an increased risk of endometriosis in a Japanese population.
3. Simpson JL, Elias S, Malinak LR, Buttram VC Jr. Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol1980;137:327-331.
4.
4. Moen MH, Magnus P. The familial risk of endometriosis. Acta Obstet Gynecol Scand1993;72:560-564.
5.
5. Kennedy S, Hadfield R, Westbrook C, Weeks DE, Barlow D, Golding S. Magnetic resonance imaging to assess familial risk in relatives of women with endometriosis. Lancet1998;352:1440-1441.
6.
6. Kennedy S. Is there a genetic basis to endometriosis?Semin Reprod Endocrinol1997;15:309-318.
7.
7. Rier SE, Martin DC, Bowman RE, Dmowski WP, Becker JL. Endometriosis in rhesus monkeys (Macaca mulatta) following chronic exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin. Fundam Appl Toxicol1993;21:433-441.
8.
8. Nakago S, Hadfield RM, Zondervan KT, et al. Association between endometriosis and N-acetyl transferase 2 polymorphisms in a UK population. Mol Hum Reprod2001;7:1079-1083.
9.
9. Board P, Coggan M, Johnston P, Ross V, Suzuki T, Webb G. Genetic heterogeneity of the human glutathione transferases: A complex of gene families. Pharmacol Ther1990;48:357-369.
10.
10. Seidegard J, Pero RW, Miller DG, Beattie EJ. A glutathione transferase in human leukocytes as a marker for the susceptibility to lung cancer. Carcinogenesis1986;7:751-753.
11.
11. Bell DA, Taylor JA, Paulson DF, Robertson CN, Mohler JL, Lucier GW. Genetic risk and carcinogen exposure: A common inherited defect of the carcinogen-metabolism gene glutathione S-transferase M1 (GSTM1) that increases susceptibility to bladder cancer. J Natl Cancer Inst1993;85:1159-1164.
12.
12. Baranova H, Perriot J, Albuisson E, et al. Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis. Hum Genet1997;99:822-826.
13.
13. Hallier E, Schroder KR, Asmuth K, Dommermuth A, Aust B, Goergens HW. Metabolism of dichloromethane (methylene chloride) to formaldehyde in human erythrocytes: Influence of polymorphism of glutathione transferase theta (GST T1-1). Arch Toxicol1994;68:423-427.
14.
14. Baranov VS, Ivaschenko T, Bakay B, et al. Proportion of the GSTM1 0/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial disease. Hum Genet1996;97:516-520.
15.
15. Baranova H, Bothorishvilli R, Canis M, et al. Glutathione S-transferase M1 gene polymorphism and susceptibility to endometriosis in a French population. Mol Hum Reprod1997;3:775-780.
16.
16. Baranova H, Canis M, Ivaschenko T, et al. Possible involvement of arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1 genes in the development of endometriosis. Mol Hum Reprod1999;5:636-641.
17.
17. Hadfield RM, Manek S, Weeks DE, et al. Linkage and association studies of the relationship between endometriosis and genes encoding the detoxification enzymes GSTM1, GSTT1 and CYP1A1. Mol Hum Reprod2001;7:1073-1078.
18.
18. The American Fertility Society. Revised American fertility society classification of endometriosis. Fertil Steril1985;43:351-352.
19.
19. Arand M, Muhlbauer R, Hengstler J, et al. A multiplex polymerase chain fraction protocol for the simultaneous analysis of the glutathione S-transferase GSTM1 and GSTT1 polymorphisms. Anal Biochem1996;236:184-186.
20.
20. Kihara M, Kihara M, Noda K. Risk of smoking for squamous and small cell carcinoma of the lung modulated by combinations of CYP1A1 and GSTM1 gene polymorphisms in a Japanese population. Carcinogenesis1995;16:2331-2336.
21.
21. Katoh T, Nagata N, Kuroda Y, et al. Glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) genetic polymorphism and susceptibility to gastric and colorectal adenocarcinoma. Carcinogenesis1996;17:1855-1859.
22.
22. Morinobu A, Kanagawa S, Koshiba M, Sugai S, Kumagai S. Association of glutathione S-transferase M1 homozygous null genotype with susceptibility to Sjogren's syndrome in Japanese individuals. Arthritis Rheum1999;42:2612-2615.
23.
23. Zondervan KT, Cardon LR, Kennedy SH. What makes a good case-control study? Design issues for complex traits such as endometriosis. Hum Reprod2002;17:1415-1423.
24.
24. Nebert DW, Gonzalez FJ. P450 genes: Structure, evolution and regulation. Annu Rev Biochem1987;56:945-993.
25.
25. Safe SH. Modulation of gene expression and endocrine response pathways by 2,3,7,8-tetrachlorodibenzo-p-dioxin and related compounds. Pharmacol Ther1995;67:247-281.
26.
26. Murata M, Watanabe M, Yamanaka M, et al. Genetic polymorphisms in cytochrome P450 (CYP) 1A1, CYP1A2, Cyp2E1, glutathione S-transferase (GST) M1 and GSTT1 and susceptibility to prostate cancer in the Japanese population. Cancer Lett2001;165:171-177.
27.
27. Kitawaki J, Obayashi H, Ishihara H, et al. Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata. Hum Reprod2001;16:51-55.
28.
28. Watanabe T, Imoto I, Kosugi Y, et al. Human arlhydrocarbon receptor repressor (AHRR) gene: Genomic structure and analysis of polymorphism in endometriosis. J Hum Genet2001;46:342-346.
29.
29. Hadfield R, Mardon H, Barlow D, Kennedy S. Delay in the diagnosis of endometriosis: A survey of women from the USA and UK. Hum Reprod1996;11:878-880.
