Results
| PMID | 19729795 |
| Gene Name | ESR1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | T/C SNP in intron 1 and exon 2 boundary of estrogen receptor (ER) alpha gene recognized by PvuII enzyme |
| Population size | 367 |
| Population details | 367 (110 cases of endometriosis, 142 cases of uterine fibroids and 115 healthy age matched women volunteers) |
| Sex | Female |
| Other associated phenotypes |
Female infertility |
|
Dis Markers. 2009;26(4):149-54. doi: 10.3233/DMA-2009-0625. Govindan, Sujatha| Shaik, Noor Ahmad| Vedicherla, Bhavani| Kodati, Vijayalakshmi| Rao, Kaipa Prabhakar| Hasan, Qurratulain Department of Genetics, Vasavi Medical and Research Centre, Khairtabad, Hyderabad-500 004, Andhra Pradesh, India. 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. Mesh Terms: Asian Continental Ancestry Group/genetics| DNA/isolation & purification/metabolism| DNA Restriction Enzymes/metabolism| Endometriosis/epidemiology/*genetics| Estrogen Receptor alpha/*genetics| Female| Gene Frequency| Genetic Markers| Genetic Predi |
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