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Hum. Reprod. Advance Access published online on January 9, 2007
Human Reproduction, doi:10.1093/humrep/del486
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© The Author 2007. 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

The G2964A 3'-untranslated region polymorphism of the signal transducer and activator of transcription 6 gene is associated with endometriosis in South Indian women

Manjula Bhanoori1, Mamata Deenadayal2, Stephen Kennedy3 and Sisinthy Shivaji1,4

1 Centre for Cellular and Molecular Biology, Hyderabad, Andhra Pradesh, India 2 Infertility Institute and Research Centre, Hyderabad, India 3 Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford, UK

4 To whom correspondence should be addressed at: Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad 500 007, Andhra Pradesh, India. Tel: +00 91 40-27192504; Fax: +00 91 40-27160591; E-mail: shivas{at}ccmb.res.in or shivajisisinthy{at}yahoo.com

BACKGROUND: The aim of the study was to test whether the signal transducer and activator of transcription 6 (STAT6) gene influences the risk of developing endometriosis.

METHODS: The single-nucleotide polymorphism, G2964A, in the 3'-untranslated region (UTR) of the STAT6 gene was tested for association in a case–control study of 232 affected women and 210 women with no evidence of disease. All the women were infertile, ascertained from the same infertility clinic and of South Indian origin. The genotype frequencies of this polymorphism were compared using PCR and sequencing analysis.

RESULTS: There were statistically significant differences in the genotype distributions (P=0.002) and allele frequencies (P=0.0002) between the cases and controls, according to codominant, dominant and recessive genotype models.

CONCLUSIONS: We report for the first time an association between the STAT6 G2964A 3'-UTR polymorphism and endometriosis in South Indian women. This finding suggests that STAT6 may contribute to disease susceptibility in endometriosis, which carries an extra interest as the gene lies in a region which has been implicated, albeit weakly, in a previous genomewide scan.

Key words: endometriosis/STAT6 gene/polymorphism


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