{"title":"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。","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":"<p><strong>Background: </strong>Preeclampsia (PE) is a gestational disease associated with developing hypertension and proteinuria.</p><p><strong>Aim: </strong>This study investigated the effects of <i>AKT1</i> polymorphisms, a key enzyme in cellular signal transmission that regulates various cellular processes associated with PE.</p><p><strong>Methods: </strong>The PCR-RFLP method was employed to genotype <i>AKT1</i> rs2494732, rs1130233, and rs1130214 polymorphisms. In silico analysis was conducted using SpliceAid2, RNAsnp, and STRING tools.</p><p><strong>Results: </strong>The <i>AKT1</i> 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.</p><p><strong>Conclusion: </strong>In conclusion, the <i>AKT1</i> rs1130233 and rs1130214 polymorphisms were found to be associated with an increased risk of PE.</p>","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":"{\"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\":\"<p><strong>Background: </strong>Preeclampsia (PE) is a gestational disease associated with developing hypertension and proteinuria.</p><p><strong>Aim: </strong>This study investigated the effects of <i>AKT1</i> polymorphisms, a key enzyme in cellular signal transmission that regulates various cellular processes associated with PE.</p><p><strong>Methods: </strong>The PCR-RFLP method was employed to genotype <i>AKT1</i> rs2494732, rs1130233, and rs1130214 polymorphisms. In silico analysis was conducted using SpliceAid2, RNAsnp, and STRING tools.</p><p><strong>Results: </strong>The <i>AKT1</i> 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.</p><p><strong>Conclusion: </strong>In conclusion, the <i>AKT1</i> rs1130233 and rs1130214 polymorphisms were found to be associated with an increased risk of PE.</p>\",\"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}","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}
The effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis.
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.
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