Estrogen receptor-alpha gene (T/C) Pvu II polymorphism in endometriosis and uterine fibroids.

Govindan S, Sujatha Govindan, Noor Ahmad Shaik, Bhavani Vedicherla, Vedicherla B, Kodati V, Vijayalakshmi Kodati, K. Prabhakar Rao, Rao KP, Kaipa Prabhakar Rao, Hasan Q, Qurratulain Hasan
Disease markers · 2009 · vol. 26(4) , pp. 149–54 · doi:10.3233/dma-2009-0625 · PMID:19729795 · PMC3833240 · W2116905460
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This study investigated the T/C Pvu II polymorphism in the estrogen receptor-alpha gene in Asian Indian women, finding a significant association of the C allele with both endometriosis and uterine fibroids.

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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) alpha 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 alpha 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 alpha 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 ERalpha 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.

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Condition tags

endometriosisdysmenorrheainfertility

MeSH descriptors

Endometriosis Estrogen Receptor alpha Leiomyoma Polymorphism, Single Nucleotide Uterine Neoplasms Asian People Asian People DNA DNA DNA DNA Restriction Enzymes DNA Restriction Enzymes Endometriosis Endometriosis Estrogen Receptor alpha Female Gene Frequency Genetic Markers Genetic Predisposition to Disease Humans

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