The effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis.

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-31 DOI:10.1080/17410541.2024.2446006

Mahnaz Rezaei, Marzieh Ghasemi, Mohsen Saravani, Hossein Shahraki-Ghadimi, Rahele Ghasemian Moghadam, Saeedeh Salimi

{"title":"The effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis.","authors":"Mahnaz Rezaei, Marzieh Ghasemi, Mohsen Saravani, Hossein Shahraki-Ghadimi, Rahele Ghasemian Moghadam, Saeedeh Salimi","doi":"10.1080/17410541.2024.2446006","DOIUrl":null,"url":null,"abstract":"Background: Preeclampsia (PE) is a gestational disease associated with developing hypertension and proteinuria.Aim: This study investigated the effects of AKT1 polymorphisms, a key enzyme in cellular signal transmission that regulates various cellular processes associated with PE.Methods: The PCR-RFLP method was employed to genotype AKT1 rs2494732, rs1130233, and rs1130214 polymorphisms. In silico analysis was conducted using SpliceAid2, RNAsnp, and STRING tools.Results: The AKT1 rs1130233 variant was associated with an increased risk of PE in log-additive and allelic models. A significant relationship was also observed between the rs1130214 variant and PE risk in several genetic models. Results from the SpliceAid2 server indicated that the rs2494732 A to G substitution creates a new binding site for the SRP-40 protein. Several key protein binding sites were lost for rs1130214 (C-to-A) and rs1130233 (C-to-T) mutations. However, RNAsnp analysis did not show significant changes in secondary structure.Conclusion: In conclusion, the AKT1 rs1130233 and rs1130214 polymorphisms were found to be associated with an increased risk of PE.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"22 1","pages":"1-9"},"PeriodicalIF":0.0000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/17410541.2024.2446006","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/31 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Preeclampsia (PE) is a gestational disease associated with developing hypertension and proteinuria.

Aim: This study investigated the effects of AKT1 polymorphisms, a key enzyme in cellular signal transmission that regulates various cellular processes associated with PE.

Methods: The PCR-RFLP method was employed to genotype AKT1 rs2494732, rs1130233, and rs1130214 polymorphisms. In silico analysis was conducted using SpliceAid2, RNAsnp, and STRING tools.

Results: The AKT1 rs1130233 variant was associated with an increased risk of PE in log-additive and allelic models. A significant relationship was also observed between the rs1130214 variant and PE risk in several genetic models. Results from the SpliceAid2 server indicated that the rs2494732 A to G substitution creates a new binding site for the SRP-40 protein. Several key protein binding sites were lost for rs1130214 (C-to-A) and rs1130233 (C-to-T) mutations. However, RNAsnp analysis did not show significant changes in secondary structure.

Conclusion: In conclusion, the AKT1 rs1130233 and rs1130214 polymorphisms were found to be associated with an increased risk of PE.

查看原文本刊更多论文

AKT1基因多态性对PE易感性的影响：病例对照研究和计算机分析。

背景：子痫前期（PE）是一种与高血压和蛋白尿相关的妊娠疾病。目的：本研究探讨了AKT1多态性的影响，AKT1多态性是细胞信号传递的关键酶，调节与PE相关的各种细胞过程。方法：采用PCR-RFLP方法对AKT1 rs2494732、rs1130233和rs1130214多态性进行基因分型。使用SpliceAid2、RNAsnp和STRING工具进行计算机分析。结果：在对数加性和等位基因模型中，AKT1 rs1130233变异与PE风险增加相关。在几个遗传模型中也观察到rs1130214变异与PE风险之间的显著关系。SpliceAid2服务器的结果表明，rs2494732 A到G的替换为SRP-40蛋白创建了一个新的结合位点。rs1130214 （C-to-A）和rs1130233 （C-to-T）突变丢失了几个关键的蛋白质结合位点。然而，RNAsnp分析未显示二级结构发生显著变化。结论：总之，AKT1 rs1130233和rs1130214多态性与PE风险增加相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Personalized medicine

自引率

0.00%

发文量