基因层面的OMICS-WAS整合的方法识别了影响心血管风险的基因:长寿家庭研究
Sandeep Acharya1, Shu Liao2, Wooseok J Jung2
1Division of Computational and Data Sciences, Washington University, St Louis, MO, USA.
Human genetics
|September 14, 2024
概括
这项研究使用多omics数据确定了在长寿家庭中影响心血管疾病风险的新型遗传因素. 突出了参与脂质代谢和免疫反应的关键基因,为长寿和心脏健康提供了新的见解.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 心血管疾病研究研究
- 生物信息学是一种生物信息学.
背景情况:
- 长寿家庭研究 (LLFS) 包括4953名参与者,跨越539个表谱,表现出异常长寿.
- 了解导致心血管风险的遗传机制对于公共卫生至关重要.
研究的目的:
- 在LLFS队列中确定与心血管疾病风险相关的遗传因素.
- 为遗传发现开发和应用一个多学科的整合管道.
主要方法:
- 开发了一个多omics整合管道,结合了罕见变异分析,全基因组协会研究 (GWAS) 和基因表达数据.
- 利用相关元分析 (CMA) 汇总11个心血管风险特征的基因水平统计数据.
- 使用弗雷明汉心脏研究 (FHS) 队列和分析的蛋白质-蛋白质相互作用 (PPI) 网络验证了这些发现.
主要成果:
- 确定了64个与心血管风险特征相关的重要基因,其中29个在FHS队列中复制.
- 在GWAS目录中发现了20个新的复制基因,缺乏先前的特征关联.
- 在已识别的基因模块中发现了对生物过程的显著丰富,如固醇运输和免疫调节.
结论:
- 突出了FCER1A,MS4A2,GATA2,HDC和HRH4等基因在动脉样硬化风险中的潜在作用.
- 建议ATG2A与BMI的关联表明与肥胖的双向关系.
- 建议ENPP3作为三甘油诱导炎症的潜在调解者,提供新的治疗点.
相关概念视频
01:11Genome-wide Association Studies-GWAS
13.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.2K
02:02Genomics
36.2K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.2K
01:28Human Genetics
547
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
547
01:19Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers
64
Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
64