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

Irene M. Waita; Atunga Nyachieo; Daniel Chai; Samson Muuo; Naomi Maina; Daniel Kariuki; Cleophas M. Kyama; Irene M. Waita; Atunga Nyachieo; Daniel Chai; Samson Muuo; Naomi Maina; Daniel Kariuki; Cleophas M. Kyama

doi:10.3934/molsci.2021007

AIMS Molecular Science

2021, Volume 8, Issue 1: 86-97. doi: 10.3934/molsci.2021007

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Research article

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

1.
Institute of Basic Sciences, Technology and Innovation, Pan African University, P.O. Box 62000-00200, Nairobi, Kenya
2.
Institute of Primate Research, P.O. Box 24481 Karen 00502, Nairobi, Kenya
3.
Kenya Medical Research Institute, P.O. Box 54840-00200, Nairobi, Kenya
4.
Department of Biochemistry, College of Health Sciences, Jomo Kenyatta University of Agriculture and Technology, P.O. Box 62000-00200, Nairobi, Kenya
5.
Department of Medical Laboratory Sciences, College of Health Sciences, Jomo Kenyatta University of Agriculture and Technology, P.O. Box 62000-00200, Nairobi, Kenya

Received: 06 December 2020 Accepted: 02 March 2021 Published: 09 March 2021

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.
- endometriosis,
- eostrogen receptor 1,
- progesterone receptor,
- polymorphisms,
- Papio anubis
Citation: Irene M. Waita, Atunga Nyachieo, Daniel Chai, Samson Muuo, Naomi Maina, Daniel Kariuki, Cleophas M. Kyama. Genetic polymorphisms in eostrogen and progesterone receptor genes in Papio anubis induced with endometriosis during early stage of the disease[J]. AIMS Molecular Science, 2021, 8(1): 86-97. doi: 10.3934/molsci.2021007

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Abstract

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

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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