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:
[email protected]
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
