Estrogen receptor alpha polymorphism and susceptibility to uterine leiomyoma

Estrogen receptor alpha polymorphism and susceptibility to uterine leiomyoma

Author Villanova, Fabiola E. Google Scholar
Andrade, Priscila M. Google Scholar
Otsuka, Audrey Y. Google Scholar
Gomes, Mariano T. V. Google Scholar
Leal, Elcio S. Google Scholar
Castro, Rodrigo A. Google Scholar
Girao, Manoel J. B. C. Google Scholar
Nishimura, Eddy Google Scholar
Baracat, Edmund C. Google Scholar
Silva, Ismael D. C. G. Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Perola Byington Hosp
Abstract Uterine leiomyoma is the most frequent pelvic tumor found in female genital tract. Some studies have suggested an association between single nucleotide polymorphisms (SNPs) in estrogen receptors genes with susceptibility in developing uterine leiomyoma. in this work, we estimated the frequency of two SNPs: one located in the intron 1 (rs9322331) and other in the exon 1 (rs17847075) of the estrogen receptor alpha (ESR1) gene in 125 women with uterine leiomyoma and 125 healthy women. To do this we used a PCR-RFLP method with Mspl and HaeIII restriction enzymes to respectively detect C/T SNPs in the intron 1 and in the exon 1 of ESR1. To our knowledge this is the first study aimed to investigate the association of ESR1 SNPs with the risk of developing uterine leiomyoma in Brazilian women. Our results showed that the allele frequencies of the exon 1 and the intron 1 of the ESR1 gene did not differ between cases and controls (P=0.325 and 0.175, respectively). Furthermore, our findings provided little support for the association of these SNPs on ESR1 with leiomyoma. However, we found that the SNP in the intron 1 of the ESR1 gene was underrepresented in the Brazilian female population.(C) 2006 Elsevier Inc. All rights reserved.
Keywords uterine leiomyoma
estrogen receptor alpha
Brazilian women
Language English
Date 2006-11-01
Published in Steroids. New York: Elsevier B.V., v. 71, n. 11-12, p. 960-965, 2006.
ISSN 0039-128X (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 960-965
Access rights Closed access
Type Article
Web of Science ID WOS:000242060200006

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