Genetic polymorphisms in eostrogen and progesterone receptor genes in Papio anubis induced with endometriosis during early stage of the disease

Genetic predisposition has been suggested to play a role in the pathogenesis of endometriosis. The most common pathogenetic hypotheses is that there is possible dysregulation of the ligand-receptorial signaling involving the main sex hormones, eostrogen and progesterone. This hypothesis indicates the need for studies to identify the genes and genomic variants involved in the pathogenesis of endometriosis. The present study investigated the genomic variants in eostrogen receptor 1 and progesterone receptor genes in baboons with induced endometriosis. Female adult olive baboons (n = 10) were induced with endometriosis by intraperitoneal inoculation of autologous menstrual endometrium. DNA was extracted from thirty plasma samples and analyzed by direct sequencing using gene specific primers to determine polymorphisms in eostrogen receptor 1 and progesterone receptor genes. To determine the single nucleotide polymorphisms, the DNA sequences were analyzed using Bioedit software. Twenty-six point mutations in eostrogen receptor 1 gene resulted to a change in amino acid (non-synonymous mutations) while thirteen had no effect on the amino acid sequence (synonymous mutations). There were two point mutations in progesterone gene although one had no effect on the amino acid sequence. Transition substitutions were more predominant than transversions in the eostrogen receptor 1 gene. These findings suggest that genetic variants of eostrogen receptor 1 gene are related to susceptibility to endometriosis and therefore this warrants further investigation on how they influence the disease pathogenesis. Abbreviations EDTA Ethylenediaminetetraacetic acid ESR 1 Eostrogen receptor 1 IPR Institute of Primate Research P. anubis Papio anubis PCR Polymerase Chain Reaction PGR Progesterone receptor PI Post Infection SNP(s) single nucleotide polymorphism(s) Acknowledgments The study was supported by Pan African University-Institute of Basic sciences, Technology and Innovation (PAUISTI), Africa-ai-Japan Project Innovation Research fund (JICA), and a grant from Research, Production and Extension Division (RPE)-JKUAT. We also acknowledge the support for the study offered by Matthew Mutinda and Robinson Mugo at KEMRI Laboratory. Conflict of interest The authors declare that they have no competing interests.

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Fertil Steril 63: 1108-1110. doi: 10.1016/S0015-0282(16)57556-6 - - Reader Comments - © 2021 the Author(s), licensee AIMS Press. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0) - Figure 1. Gel analysis of ESR 1 & PGR genes. (A) PCR amplification of ESR 1 using gene-specific primers. Lanes 3, 5, 6, 8, 9, 23–25, 31 & 32 are controls, Lanes 11, 22, 33 are NTCs and lanes 1, 2, 4, 10, 12 (25 dpi), 13–22 (50 dpi), 26–30 (25 dpi) are diseased samples. (B) PCR amplification of PGR using gene-specific primers. Lanes 1–10 (25 dpi), 12–21 (50 dpi), 23–32 (Controls) represents diseased samples while 11, 22 & 33 are NTCs - Figure 2. Analysis of SNPs in the DNA sequence of ESR 1 gene. The polymorphism in the ESR 1 gene is represented by multiple sequence alignment in Bioedit software - Figure 3. Analysis of SNPs in the DNA sequence of PGR gene. The polymorphism in the PGR gene is represented by multiple sequence alignment in Bioedit software - Figure 4. Distribution of transitions and trans versions among SNPs in ESR 1 gene