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 th...

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Main Authors: Irene M. Waita, Atunga Nyachieo, Daniel Chai, Samson Muuo, Naomi Maina, Daniel Kariuki, Cleophas M. Kyama
Format: Article
Language:English
Published: AIMS Press 2021-03-01
Series:AIMS Molecular Science
Subjects:
Online Access:http://www.aimspress.com/article/doi/10.3934/molsci.2021007?viewType=HTML
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author Irene M. Waita
Atunga Nyachieo
Daniel Chai
Samson Muuo
Naomi Maina
Daniel Kariuki
Cleophas M. Kyama
author_facet Irene M. Waita
Atunga Nyachieo
Daniel Chai
Samson Muuo
Naomi Maina
Daniel Kariuki
Cleophas M. Kyama
author_sort Irene M. Waita
collection DOAJ
description 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.
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spelling doaj.art-de619129b6e045d3bc0c7561747586092022-12-22T01:33:58ZengAIMS PressAIMS Molecular Science2372-03012021-03-0181869710.3934/molsci.2021007Genetic polymorphisms in eostrogen and progesterone receptor genes in Papio anubis induced with endometriosis during early stage of the diseaseIrene M. Waita0Atunga Nyachieo 1Daniel Chai2Samson Muuo3Naomi Maina 4Daniel Kariuki 5Cleophas M. Kyama61. Institute of Basic Sciences, Technology and Innovation, Pan African University, P.O. Box 62000-00200, Nairobi, Kenya2. Institute of Primate Research, P.O. Box 24481 Karen 00502, Nairobi, Kenya2. Institute of Primate Research, P.O. Box 24481 Karen 00502, Nairobi, Kenya3. Kenya Medical Research Institute, P.O. Box 54840-00200, Nairobi, Kenya4. Department of Biochemistry, College of Health Sciences, Jomo Kenyatta University of Agriculture and Technology, P.O. Box 62000-00200, Nairobi, Kenya4. Department of Biochemistry, College of Health Sciences, Jomo Kenyatta University of Agriculture and Technology, P.O. Box 62000-00200, Nairobi, Kenya5. Department of Medical Laboratory Sciences, College of Health Sciences, Jomo Kenyatta University of Agriculture and Technology, P.O. Box 62000-00200, Nairobi, KenyaGenetic 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.http://www.aimspress.com/article/doi/10.3934/molsci.2021007?viewType=HTMLendometriosiseostrogen receptor 1progesterone receptorpolymorphismspapio anubis
spellingShingle 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
AIMS Molecular Science
endometriosis
eostrogen receptor 1
progesterone receptor
polymorphisms
papio anubis
title Genetic polymorphisms in eostrogen and progesterone receptor genes in Papio anubis induced with endometriosis during early stage of the disease
title_full Genetic polymorphisms in eostrogen and progesterone receptor genes in Papio anubis induced with endometriosis during early stage of the disease
title_fullStr Genetic polymorphisms in eostrogen and progesterone receptor genes in Papio anubis induced with endometriosis during early stage of the disease
title_full_unstemmed Genetic polymorphisms in eostrogen and progesterone receptor genes in Papio anubis induced with endometriosis during early stage of the disease
title_short Genetic polymorphisms in eostrogen and progesterone receptor genes in Papio anubis induced with endometriosis during early stage of the disease
title_sort genetic polymorphisms in eostrogen and progesterone receptor genes in papio anubis induced with endometriosis during early stage of the disease
topic endometriosis
eostrogen receptor 1
progesterone receptor
polymorphisms
papio anubis
url http://www.aimspress.com/article/doi/10.3934/molsci.2021007?viewType=HTML
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