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. 2015 Oct 8:14:1085-94.
doi: 10.17179/excli2015-559. eCollection 2015.

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

Sinha Liaqat  1 , Shahida Hasnain  2 , Saima Muzammil  3 , Sumreen Hayat  3
Affiliations

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

Sinha Liaqat et al. EXCLI J. .

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.

Keywords: estrogen receptor; genetic; haplotype; infertility; linkage disequilibrium; polymorphism.

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Figures

Table 1
Table 1. Primers, PCR conditions and restriction enzymes for estrogen receptor SNPs
Table 2
Table 2. Classification of male and female patients on the basis of various type of infertility
Table 3
Table 3. Frequency distribution of ESRα genotype, alleles and their association with Hardy-Weinberg equilibrium (HWE)
Table 4
Table 4. Tests for association of allele frequencies and genotypes of ESRα, XbaI and PvuII with risk of infertility
Figure 1
Figure 1. Scatter plot of positive linear correlation between age and FSH of fertile female subjects
Figure 2
Figure 2. Linkage disequilibrium comparison of PvuII (rs2234693) and XbaI (rs9340799) in ESRα gene
See this image and copyright information in PMC

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