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

dc.contributor.authorLiaqat, Sinha
dc.contributor.authorHasnain, Shahida
dc.contributor.authorMuzammil, Saima
dc.contributor.authorHayat, Sumreen
dc.date.accessioned2016-06-06T12:32:40Z
dc.date.available2016-06-06T12:32:40Z
dc.date.issued2015-10-08
dc.description.abstractStudies 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.en
dc.identifier.doi10.17179/excli2015-559
dc.identifier.issn1611-2156
dc.identifier.urihttp://hdl.handle.net/2003/35051
dc.identifier.urihttp://dx.doi.org/10.17877/DE290R-17099
dc.language.isoen
dc.relation.ispartofseriesEXCLI Journal;Vol. 14, 2015en
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectestrogen receptoren
dc.subjectinfertilityen
dc.subjectpolymorphismen
dc.subjecthaplotypeen
dc.subjectgeneticen
dc.subjectlinkage disequilibriumen
dc.subject.ddc610
dc.titlePolymorphism analysis in estrogen receptors alpha and beta genes and their association with infertile population in Pakistanen
dc.typeText
dc.type.publicationtypearticle
dcterms.accessRightsopen access
eldorado.dnb.zdberstkatid2132560-1

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