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Disease Markers
Volume 26 (2009), Issue 4, Pages 149-154
http://dx.doi.org/10.3233/DMA-2009-0625

Estrogen Receptor-α gene (T/C) Pvu II Polymorphism in Endometriosis and Uterine Fibroids

Sujatha Govindan,1,2 Noor Ahmad Shaik,1,3,5 Bhavani Vedicherla,1 Vijayalakshmi Kodati,1 Kaipa Prabhakar Rao,3 and Qurratulain Hasan1,2,4

1Department of Genetics, Vasavi Medical and Research Centre, Khairtabad, Hyderabad-500 004, Andhra Pradesh, India
2Department of Genetics, Bhagwan Mahavir Medical Research Centre, A.C. Guards, Hyderabad-500 004, Andhra Pradesh, India
3Department of Genetics, University College of Science, Osmania University, Hyderabad-500 007, Andhra Pradesh, India
4Department of Genetics and Molecular Medicine, Kamineni Hospitals, L.B. Nagar, Hyderabad-500 044, Andhra Pradesh, India
5Biomarkers Research Centre, Department of Biochemistry, King Saud University, Riyadh-11451, Saudi Arabia

Received 19 August 2009; Accepted 19 August 2009

Copyright © 2009 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Endometriosis and fibroids are estrogen-dependent benign pathologies of the uterus, which account for infertility and pelvic pain along with dysmenorrhea in women. Suppression of the disease and recurrence after discontinuing hormone therapy strongly suggests that these are responsive to hormones, especially estrogen, which acts via its receptor. A T/C SNP in intron 1 and exon 2 boundary of estrogen receptor (ER) α gene recognized by PvuII enzyme has been associated with several female pathologies like breast cancer, osteoporosis, endometriosis and fibroids in various ethnic groups. The aim of the present study was to assess this ER α T/C polymorphism in endometriosis and fibroid patients from Asian Indian population. Genomic DNA was isolated from 367 women, who included 110 cases of endometriosis, 142 cases of uterine fibroids and 115 healthy age matched women volunteers. PCR was carried out to amplify ER α gene followed by restriction digestion with Pvu II. Results indicate a significant association of C allele with both endometriosis [OR = 2.6667, 95% CI = 1.4166 to 5.0199; p < 0.05] and fibroids [2.0833, 95% CI = 1.1327 to 3.8319; p < 0.05]. Further studies are needed in larger population to establish ER α C allele as a risk marker for endometriosis and fibroids in Asian Indian women. Ethnicity, race, diet etc may play a role in susceptibility to endometriosis and fibroids and further studies are warranted in this area.