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Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome

BACKGROUND: Polycystic ovary syndrome (PCOS) is a multifactorial and heterogeneous disease that has a potent inheritable component based on familial clustering. Despite many studies in the genetic field of PCOS, the genes that are involved in the causes of this syndrome have not been thoroughly inve...

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Autores principales: Zangeneh, Farideh Zafari, Shoushtari, Maryam Sarmast, Shojaee, Sahar, Aboutorabi, Elahe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Knowledge E 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7142317/
https://www.ncbi.nlm.nih.gov/pubmed/32309765
http://dx.doi.org/10.18502/ijrm.v18i3.6712
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author Zangeneh, Farideh Zafari
Shoushtari, Maryam Sarmast
Shojaee, Sahar
Aboutorabi, Elahe
author_facet Zangeneh, Farideh Zafari
Shoushtari, Maryam Sarmast
Shojaee, Sahar
Aboutorabi, Elahe
author_sort Zangeneh, Farideh Zafari
collection PubMed
description BACKGROUND: Polycystic ovary syndrome (PCOS) is a multifactorial and heterogeneous disease that has a potent inheritable component based on familial clustering. Despite many studies in the genetic field of PCOS, the genes that are involved in the causes of this syndrome have not been thoroughly investigated. OBJECTIVE: The purpose of this study was to establish the occurrence of the Trp64Arg polymorphism of beta3 adrenergic receptor in non-obese women with PCOS. MATERIALS AND METHODS: This cross-sectional study was performed on 100 women with PCOS and normal women as the control group in Imam Khomeini Hospital of Tehran in 2016-2017. Peripheral blood sample (2 cc) was obtained from two groups for genomic DNA based on the gene bank. Polymorphisms were genotyped by of using ADRB3 Trp64Arg. Then the DNA was extracted by genomic kiagen kit. The primer was analyzed for PCR based on gene bank by using Primer3 software and then confirmed by primer Blast tool at NCBI site to conformity to the beta-3 adrenergic receptor gene. The protein changes were assessment by the Clastal W software. RESULTS: The sequence analysis presented in NCBI, transcript variant 1, with the code NM_000025.2, shows changes in the amino acid sequence of exon 1 in women with PCOS. Polymorphism in the codon 64 encoding the amino acid tryptophan (W) occurred in the nucleotide c.T190C, which changed the nucleotide T to C and then the amino acid sequence of the tryptophan was altered to arginine pW64R. CONCLUSION: T-C polymorphism is evident in the codon 64 of the adrenergic β3 receptor in patients with PCOS. Therefore, Beta3 adrenergic receptor gene polymorphism (Thr164Ile) associates with this syndrome in nonobese women.
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spelling pubmed-71423172020-04-17 Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome Zangeneh, Farideh Zafari Shoushtari, Maryam Sarmast Shojaee, Sahar Aboutorabi, Elahe Int J Reprod Biomed Research Article BACKGROUND: Polycystic ovary syndrome (PCOS) is a multifactorial and heterogeneous disease that has a potent inheritable component based on familial clustering. Despite many studies in the genetic field of PCOS, the genes that are involved in the causes of this syndrome have not been thoroughly investigated. OBJECTIVE: The purpose of this study was to establish the occurrence of the Trp64Arg polymorphism of beta3 adrenergic receptor in non-obese women with PCOS. MATERIALS AND METHODS: This cross-sectional study was performed on 100 women with PCOS and normal women as the control group in Imam Khomeini Hospital of Tehran in 2016-2017. Peripheral blood sample (2 cc) was obtained from two groups for genomic DNA based on the gene bank. Polymorphisms were genotyped by of using ADRB3 Trp64Arg. Then the DNA was extracted by genomic kiagen kit. The primer was analyzed for PCR based on gene bank by using Primer3 software and then confirmed by primer Blast tool at NCBI site to conformity to the beta-3 adrenergic receptor gene. The protein changes were assessment by the Clastal W software. RESULTS: The sequence analysis presented in NCBI, transcript variant 1, with the code NM_000025.2, shows changes in the amino acid sequence of exon 1 in women with PCOS. Polymorphism in the codon 64 encoding the amino acid tryptophan (W) occurred in the nucleotide c.T190C, which changed the nucleotide T to C and then the amino acid sequence of the tryptophan was altered to arginine pW64R. CONCLUSION: T-C polymorphism is evident in the codon 64 of the adrenergic β3 receptor in patients with PCOS. Therefore, Beta3 adrenergic receptor gene polymorphism (Thr164Ile) associates with this syndrome in nonobese women. Knowledge E 2020-03-29 /pmc/articles/PMC7142317/ /pubmed/32309765 http://dx.doi.org/10.18502/ijrm.v18i3.6712 Text en Copyright © 2020 Zafari Zangeneh et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. which permits unrestricted use and redistribution provided that the original author and source are credited.
spellingShingle Research Article
Zangeneh, Farideh Zafari
Shoushtari, Maryam Sarmast
Shojaee, Sahar
Aboutorabi, Elahe
Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome
title Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome
title_full Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome
title_fullStr Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome
title_full_unstemmed Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome
title_short Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome
title_sort investigation trp64arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7142317/
https://www.ncbi.nlm.nih.gov/pubmed/32309765
http://dx.doi.org/10.18502/ijrm.v18i3.6712
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