Mol. Hum. Reprod. Advance Access originally published online on December 3, 2004
Molecular Human Reproduction 2005 11(2):93-98; doi:10.1093/molehr/gah134
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Maternal genetic polymorphisms in CYP1A1, GSTM1 and GSTT1 and the risk of hypospadias
1Department of Public Health, 2Department of Renal and Genitourinary Surgery and 3Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-ku, Sapporo 060-8638, Japan
4 To whom correspondence should be addressed. Email: noriek{at}med.hokudai.ac.jp
Hypospadias is one of the most common congenital anomalies. Increased exposure to environmental factors (endocrine-disrupting chemicals and smoking) or maternal endogenous estrogen may cause hypospadias because male sexual differentiation is dependent on normal androgen homeostasis. Moreover, interactions between genetic factors and cigarette smoking and other chemicals have been suggested. It has been demonstrated that the CYP1A1 metabolizes not only environmental chemicals but also estrogens, and glutathione-S-transferases (GSTs) are detoxification enzymes that protect cells from toxicants by conjugation with glutathione. In this study, to investigate the association of CYP1A1 (MspI), GSTM1 and GSTT1 polymorphisms with hypospadias, a case–control study of 31 case mothers who had boys with hypospadias and 64 control mothers was performed in Japan. These polymorphisms were investigated by PCR-based methods using DNA from peripheral lymphocytes. We found that the heterozygous CYP1A1 and heterozygous and homozygous CYP1A1 were less frequent in the case mothers than in the control mothers [adjusted odds ratio (OR)=0.17, 95% confidence interval (CI)=0.04–0.74, OR = 0.28, 95% CI = 0.08–0.97, respectively]. We found no effect of maternal smoking on the hypospadias risks among the gene polymorphisms. The results suggest that mothers with the CYP1A1 MspI variant allele may have a decreased risk for hypospadias.
Key words: CYP1A1/genetic polymorphism/GSTM1/GSTT1/hypospadias
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