International Journal of Reproductive BioMedicine
Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences of Yazd
Vol. 18, No. 3, 2020, pp. 165-174
Bioline Code: rm20021
Full paper language: English
Document type: Research Article
Document available free of charge
International Journal of Reproductive BioMedicine, Vol. 18, No. 3, 2020, pp. 165-174
© Copyright 2020- Zafari Zangeneh et al.
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
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.
Codon 64; Beta-3 adrenergic receptor; Polymorphism; Polycystic ovarian syndrome.
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