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Transforming growth factor beta 1 (TGFβ1) polymorphisms and unexplained infertility: A genetic association study.
Systems Biology in Reproductive Medicine ( IF 2.4 ) Pub Date : 2020-07-31 , DOI: 10.1080/19396368.2020.1773575
Farnaz Marhemati 1 , Ramazan Rezaei 1 , Anahita Mohseni Meybodi 2 , Robabeh Taheripanah 3 , Shayan Mostafaei 4, 5 , Davar Amani 1, 3
Affiliation  

The prevalence of infertility is increasing and worrisome. About 10 to 30% of infertility is classified as idiopathic or unexplained infertility (UI).TGF-β is multifunctional and immunoregulatry cytokine which regulates both implantation and adhesion of trophoblasts to the extracellular matrix during pregnancy. The aim of the current study was to investigate the association between two polymorphisms rs1800470 (C29T) and rs1800471 (G74C) of the TGF-β1 gene in Iranian patients with unexplained infertility. A total of 250 UI patients and 484 healthy individuals with no history of infertility were included in the study. The amplification and sequencing of target DNA fragments were done using PCR and automated sequencing methods, respectively. The effects of these polymorphisms on both TGF-β1 structure and function of mRNA and protein were analyzed using new in-silico tools. The frequency distribution of the alleles, genotypes, and haplotypes of both rs1800470 and rs1800471 polymorphisms had a statistically significant difference between subjects and controls. CC genotype of TGF-β1 rs1800470 (29C→T) increase the risk of UI in male UI patients. Moreover, C alleles of TGF-β1 rs1800471 was associated with increased risk of UI in female UI patients. Couples, subgroup analysis revealed a significant association between TGF-β1 polymorphisms (rs1800470, rs1800471) and the risk of UI in male, female, and all UI patients. The frequency of TG and CG haplotypes were statistically different in both UI and healthy subjects group (P < 0.05). RS1800471 polymorphisms changed the secondary structure of TGF-β1 mRNA and resulted in the removal of one mRNA arm and creation of two new arms. Taken together, the results of the current study suggest that TGF-β1 functional polymorphisms may play an important role in the susceptibility to UI in Iranian population. According to in silico analysis, polymorphisms in TGF-β1 can reduce mRNA half-life and, therefore, reduced TGF-β1 expression. 



中文翻译:

转化生长因子β1(TGFβ1)多态性与无法解释的不育症:一项遗传关联研究。

不孕症的患病率正在上升,令人担忧。大约10%至30%的不育症被归为特发性或无法解释的不育症(UI)。TGF-β是多功能且具有免疫调节作用的细胞因子,可在妊娠期间调节滋养细胞的植入和黏附到细胞外基质。本研究的目的是调查无法解释的不育症伊朗患者中TGF-β1基因的两个多态性rs1800470(C29T)和rs1800471(G74C)之间的关联。该研究共包括250名UI患者和484名无生育史的健康个体。分别使用PCR和自动测序方法对目标DNA片段进行扩增和测序。这些多态性对两者的影响使用新型计算机模拟工具分析了TGF-β1的mRNA和蛋白质的结构和功能。rs1800470和rs1800471多态性的等位基因,基因型和单倍型的频率分布在受试者和对照组之间具有统计学上的显着差异。TGF-β1rs1800470(29C→T)的CC基因型增加了男性UI患者的UI风险。此外,女性UI患者中TGF-β1rs1800471的C等位基因与UI风险增加相关。夫妇的亚组分析显示,男性,女性和所有UI患者的TGF-β1多态性(rs1800470,rs1800471)与UI风险之间存在显着关联。在UI和健康受试者组中TG和CG单倍型的频率在统计学上是不同的(P <0.05)。RS1800471的多态性改变了其二级结构。TGF-β1mRNA并导致一个mRNA臂的去除和两个新臂的创建。综上所述,当前研究的结果表明,TGF-β1功能多态性可能在伊朗人群对UI的易感性中起重要作用。根据计算机分析,TGF-β1中的多态性可以降低mRNA的半衰期,从而降低TGF-β1的表达。 

更新日期:2020-08-14
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