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. 2021 Feb 25;18(1):91-95.
doi: 10.4274/tjps.galenos.2019.94914.

Polymorphisms of Estrogen Receptor-α and Estrogen Receptor-β Genes and its Expression in Endometriosis

Eldafira Eldafira  1   2 , Vivitri Dewi Prasasty  3 , Abinawanto Abinawanto  2 , Luthfiralda Syahfirdi  2 , Dwi Ari Pujianto  1
Affiliations

Polymorphisms of Estrogen Receptor-α and Estrogen Receptor-β Genes and its Expression in Endometriosis

Eldafira Eldafira et al. Turk J Pharm Sci. .

Abstract

Objectives: Endometriosis is a common gynecological disorder, characterized by the presence of endometrial-like tissue in the extrauterine location. The increasing estradiol concentration can influence endometriosis risk and estrogen receptor (ER) activity. Polymorphism in ER causes gene expression alteration and influences hormone-receptor interaction. This research aims to determine ER genetic polymorphisms in endometriosis pathogenesis.

Materials and methods: This study was performed on case-control polymorphisms, which compared 83 women with endometriosis and 76 women without endometriosis. However, the samples used for ER gene expression analysis and estrogen level measurement were obtained from 18 women with endometriosis and 18 women without endometriosis. Polymerase chain reaction-restriction fragment length polymorphism was used to determine ER genetic polymorphisms. Chi-square, Mann-Whitney test, Spearman's correlation (p), t-independent, and two-tailed tests were used to analyze the data.

Results: Association between the allele ERα rs9340799 A/G and endometriosis was significantly different (p=0.012), whereas rs2234693 T/C polymorphism showed no association with endometriosis. The correlation between the genotype frequencies of allele ERβ rs4986938 G/A and endometriosis was found significantly different (p=0.015; p=0.034).

Conclusion: Estradiol level and ERβ expression increases, polymorphism genotypes and alleles of ERβ rs4986938 G/A gene and allele frequency of ERα rs9340799 A/G gene have roles in endometriosis.

Keywords: Estradiol (E2); endometriosis; estrogen receptor (ERα and ERβ).

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Conflict of interest statement

Conflicts of interest: No conflict of interest was declared by the authors. The authors alone are responsible for the content and writing of the paper.

Figures

Figure 1
Figure 1
Polymerase chain reaction-restriction fragment length polymorphism results of gene intron 1 rs 9340799 ERα using XbaI. Marker (M), well no: 1 and 3 are the homozygous mutant (GG); well no: 2, 6, and 7 are the heterozygous (AG); and well no: 4 and 5 are the homozygous wild type (AA), ER: Estrogen receptor
Figure 2
Figure 2
Polymerase chain reaction-restriction fragment length polymorphism of gene intron 1 rs 2234693 ERα using PvuII. Marker (M), well no: 3 is the wild-type genotype (TT); well no: 2, 4, and 6 are the homozygous mutant genotype (CC); and well no: 1 and 5 are the heterozygous genotype (TC), ER: Estrogen receptor
Figure 3
Figure 3
Polymerase chain reaction-restriction fragment length polymorphism of ERβ exon 8 rs4986938 using AluI. Marker (M), well no: 1 and 5 are the heterozygous genotypes (GA); well no. 2, 3, 4, 6, and 7 are the wild-type homozygous genotype (GG). This image does include the mutant genotype (AA), ER: Estrogen receptor
See this image and copyright information in PMC

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