文章摘要
胡家宾,孟令丙,蔡爽,等.基于全基因组关联研究和孟德尔随机化的肥厚型心肌病与老年高血压因果关系[J].中国临床保健杂志,2025,28(4):532-538.
基于全基因组关联研究和孟德尔随机化的肥厚型心肌病与老年高血压因果关系
Mendelian randomization and GWAS-Based analysis of the causal relationship between genetic susceptibility to hypertrophic cardiomyopathy and elderly hypertension
投稿时间：2025-05-27  
DOI：10.3969/J.issn.1672-6790.2025.04.019
中文关键词: 肥厚型心肌病  高血压  孟德尔随机化分析  衰老  老年人
英文关键词: Cardiomyopathy,hypertrophic  Hypertension  Mendelian randomization analysis  Aging  Aged
基金项目:国家重点研发计划项目(2020YFC2008901,2024YFA1109100,2024YFA1109105)
作者单位E-mail
胡家宾 中国人民解放军总医院第二医学中心老年医学科,北京 100853
中国人民解放军医学院,北京 100853
联合参谋部警卫局卫生保健处,北京 100017 		humayifeng@163.com 
孟令丙 中国医学科学院阜外医院,北京 100037  
蔡爽 中国人民解放军医学院,北京 100853
北京海淀第五十一离职干部休养所门诊部,北京 100036 		 
张楠 中国人民解放军总医院第二医学中心老年医学科,北京 100853
中国人民解放军医学院,北京 100853 		 
王曙霞 中国人民解放军总医院第二医学中心老年医学科,北京 100853
中国人民解放军医学院,北京 100853 		 
朱平 中国人民解放军总医院第二医学中心老年医学科,北京 100853
中国人民解放军医学院,北京 100853 		zhuping301hospital@163.com 
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中文摘要:
      目的 探讨肥厚型心肌病(HCM)与老年高血压之间的关系及沉默信息调节因子1(SIRT1)可能发挥的作用。方法 使用来自FinnGen(Finnish Genetic Research Project)项目的HCM相关单核苷酸多态性作为工具变量,进行双样本孟德尔随机化分析。通过反方差加权法、MR-Egger回归和加权中位数回归法等多种方法,分析HCM与老年高血压之间的因果关系。采用蛋白质相互作用网络分析SIRT1和SMAD家族成员3(SMAD3)在该因果关系中的潜在作用,特别是在衰老相关机制中的调节作用。结果 HCM与老年高血压之间存在显著的正向因果关系,特别是在逆方差加权法的支持下(OR=1.175,95% CI:1.047~1.318,P=0.006)。加权中位数回归法和MR-Egger方法的结果也表明两者之间存在正相关关系。蛋白质相互作用网络分析揭示了SIRT1基因可能在HCM与老年高血压的共同机制中发挥重要作用,尤其是SIRT1在衰老过程中对心血管健康的潜在保护作用。结论 通过孟德尔随机化方法确认了HCM与老年高血压之间的因果关系,SIRT1可能参与HCM与高血压的共同分子机制。
英文摘要:
      Objective To explore the relationship between hypertrophic cardiomyopathy (HCM) and elderly hypertension,as well as the potential role of silent information regulator 1 (SIRT1).Methods We used hypertrophic cardiomyopathy-related single nucleotide polymorphisms (SNP) from the FinnGen project as instrumental variables for a two-sample MR analysis.Inverse variance weighting,MR-Egger and weighted median regression were used to analyze the causal relationship between HCM and Elderly hypertension.Additionally,protein-protein interaction network analysis was conducted to explore the potential role of SIRT1 and SMAD3 genes in this causal relationship,particularly their regulatory roles in aging-related mechanisms.Results There was a significant positive causal relationship between HCM and elderly hypertension,particularly supported by the IVW method (OR=1.175,95%CI:1.047-1.318,P=0.006).The results from weighted median regression and MR-Egger methods also indicated a positive correlation between the two.The protein-protein interaction network analysis revealed that the SIRT1 gene may play an important role in the shared mechanisms of HCM and elderly hypertension,particularly its potential protective effects on cardiovascular health during aging.Conclusions This Mendelian randomization study confirmed a causal relationship between HCM and elderly hypertension.SIRT1 may be involved in the shared molecular mechanisms of HCM and elderly hypertension,with certain biological relevance.
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