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Hum. Reprod. Advance Access originally published online on March 27, 2008
Human Reproduction 2008 23(6):1466-1471; doi:10.1093/humrep/den098
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Genetic polymorphisms of ESR1 and ESR2 that may influence estrogen activity and the risk of hypospadias

Susumu Ban1,4, Fumihiro Sata1, Norie Kurahashi1, Setsuko Kasai1, Kimihiko Moriya2, Hidehiro Kakizaki2,3, Katsuya Nonomura2 and Reiko Kishi1

1 Department of Public Health, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-ku, Sapporo 060-8638, Japan 2 Department of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan 3 Department of Urology, Asahikawa Medical College, Asahikawa 078-8510, Japan

4 Correspondence address. Tel: +81-11-706-5068; Fax: +81 11-706-7805; E-mail: sban{at}med.hokudai.ac.jp

BACKGROUND: The etiology of hypospadias is regarded as a complex disorder with both genetic and environmental contributions. Although alterations in androgen activity have been associated with hypospadias, few associations with estrogen activity have been documented. Here, we assessed genetic polymorphisms in estrogen receptor genes and their association with hypospadias.

METHODS: Using a case–control study of 59 cases with hypospadias and 286 controls, we examined the association of hypospadias with the following polymorphisms: PvuII and XbaI in ESR1, and 2681-4A>G in ESR2.

RESULTS: For the cases, we found a negative association with the G allele containing variants of ESR1 XbaI (OR = 0.52, P < 0.05), and a negative association with the G allele containing variants of ESR2 2681-4A>G (OR = 0.59, P < 0.05). For the cases, we also identified a negative association with the CG haplotype, and a positive association with the CA haplotype, defined by ESR1 PvuII and XbaI (P < 0.05).

CONCLUSIONS: These findings suggest that the G allele containing variants of ESR1 XbaI and the G allele containing variants of ESR2 2681-4A>G may decrease the risk of hypospadias, whereas the ESR1 C-A haplotype may increase its risk.

Key words: estrogen/hypospadias/polymorphism/ESR1/ESR2

Submitted on November 16, 2007; resubmitted on February 12, 2008; accepted on February 28, 2008.


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