Polymorphism analysis in estrogen receptors alpha and beta genes and their association with infertile population in Pakistan

Authors

  • Sinha Liaqat Department of Microbiology, Government College University, Faisalabad, Pakistan; Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan
  • Shahida Hasnain The Women University, 60000, Multan, Pakistan
  • Saima Muzammil Department of Microbiology, Government College University, Faisalabad, Pakistan
  • Sumreen Hayat Department of Microbiology, Government College University, Faisalabad, Pakistan

DOI:

https://doi.org/10.17179/excli2015-559

Keywords:

estrogen receptor, infertility, polymorphism, haplotype, genetic, linkage disequilibrium

Abstract

Studies on polymorphism of estrogen receptor (ESR) alpha and beta genes have been mostly implicated in infertility, but the results have been controversial due to lack of comprehensive data. The present study focused on association of ESR genes with both male and female infertility. In ESRα, PvuII (rs2234693) and XbaI (rs9340799) were studied while in ESRβ gene, risk of infertility was determined for silent G/A RsaI (rs1256049) polymorphism. Total 124 subjects (74 cases and 50 controls) were part of this study having primary infertility. Restriction fragment length polymorphism (RFLP) was performed with PvuII, XbaI and RsaI to determine polymorphism. Correlation between age and follicle stimulating hormone (FSH) of cases and controls was determined and no association was found between infertility and FSH hormone. Heterozygous AG genotype of XbaI polymorphism (P= 2.505e-06) and heterozygous TC genotype (P= 0.00003) in PvuII polymorphism were strongly associated with risk of infertility. In ESRβ gene, there was lack of polymorphism for RsaI in our population as all subjects were homozygous (GG). Haplotype frequencies showed that XbaI and PvuII polymorphisms are in strong linkage disequilibrium. This study shows that in our population XbaI and PvuII polymorphisms of ESRα are associated with risk of infertility.

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Published

2015-10-08

How to Cite

Liaqat, S., Hasnain, S., Muzammil, S., & Hayat, S. (2015). Polymorphism analysis in estrogen receptors alpha and beta genes and their association with infertile population in Pakistan. EXCLI Journal, 14, 1085–1094. https://doi.org/10.17179/excli2015-559

Issue

Vol. 14 (2015)

Section

Original articles

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