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Article type: Research Article
Authors: Govindan, Sujatha; | Shaik, Noor Ahmad; ; | Vedicherla, Bhavani | Kodati, Vijayalakshmi | Rao, Kaipa Prabhakar | Hasan, Qurratulain; ;
Affiliations: Department of Genetics, Vasavi Medical and Research Centre, Khairtabad, Hyderabad-500 004, Andhra Pradesh, India | Department of Genetics, Bhagwan Mahavir Medical Research Centre, A.C. Guards, Hyderabad-500 004, Andhra Pradesh, India | Department of Genetics, University College of Science, Osmania University, Hyderabad-500 007, Andhra Pradesh, India | Department of Genetics and Molecular Medicine, Kamineni Hospitals, L.B. Nagar, Hyderabad-500 044, Andhra Pradesh, India | Biomarkers Research Centre, Department of Biochemistry, King Saud University, Riyadh-11451, Saudi Arabia
Note: [] Corresponding author: Dr. Q. Hasan, Research Advisor, Dept of Genetics & Molecular Medicine, Vasavi Medical and Research Centre, Hyderabad-500004, India. Tel.: +91 40 23210251; Fax: +91 40 66107930; E-mail: qhasan2000@yahoo.com
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 ERα 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.
Keywords: Estrogen receptor, Pvu II polymorphism, Intron 1, endometriosis, fibroids
DOI: 10.3233/DMA-2009-0625
Journal: Disease Markers, vol. 26, no. 4, pp. 149-154, 2009
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