Zangeneh Farideh Zafari, Shoushtari Maryam Sarmast, Shojaee Sahar, Aboutorabi Elahe
Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Department of Chemical and Environment, Faculty of Engineering, UPM, Selangor, Malaysia.
Int J Reprod Biomed. 2020 Mar 29;18(3):165-174. doi: 10.18502/ijrm.v18i3.6712. eCollection 2020 Mar.
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.
The purpose of this study was to establish the occurrence of the Trp64Arg polymorphism of beta3 adrenergic receptor in non-obese women with PCOS.
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.
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.
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.
多囊卵巢综合征（PCOS）是一种多因素、异质性疾病，基于家族聚集性具有较强的遗传成分。尽管在PCOS的遗传学领域有许多研究，但参与该综合征病因的基因尚未得到充分研究。
本研究旨在确定非肥胖PCOS女性中β3肾上腺素能受体Trp64Arg多态性的发生情况。
本横断面研究于2016 - 2017年在德黑兰伊玛目霍梅尼医院对100例PCOS女性和正常女性作为对照组进行。基于基因库从两组获取外周血样本（2毫升）用于基因组DNA提取。使用ADRB3 Trp64Arg对多态性进行基因分型。然后通过基因组kiagen试剂盒提取DNA。使用Primer3软件基于基因库对引物进行PCR分析，然后通过NCBI网站的引物Blast工具确认其与β-3肾上腺素能受体基因的一致性。通过Clastal W软件评估蛋白质变化。
NCBI中呈现的序列分析，转录变体1，编码为NM_000025.2，显示PCOS女性中外显子1的氨基酸序列发生变化。编码色氨酸（W）的密码子64处的多态性发生在核苷酸c.T190C，该核苷酸T变为C，然后色氨酸的氨基酸序列改变为精氨酸pW64R。
PCOS患者肾上腺素能β3受体密码子64处T - C多态性明显。因此，β3肾上腺素能受体基因多态性（Thr164Ile）与非肥胖女性的该综合征相关。
