确定外围动脉疾病的多原子形因子
medRxiv : the preprint server for health sciences
|August 12, 2025
概括
共享的遗传因素将外周动脉疾病 (PAD) 与2型糖尿病 (T2D) 和冠状动脉疾病 (CAD) 联系起来. 这项多原子研究揭示了转录组和蛋白质组的质变异性,增强了对PAD并发症的理解.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病 心血管疾病
- 代谢性疾病 代谢性疾病
背景情况:
- 周围动脉疾病 (PAD) 是常见的,通常与2型糖尿病 (T2D) 和冠状动脉疾病 (CAD) 一起发生.
- 共同的遗传因素可能是这些条件的基础,但转录基因和蛋白质基因质变异仍然未得到充分探索.
研究的目的:
- 使用多原子数据调查PAD,T2D和CAD之间共享的遗传架构.
- 在变体,转录和蛋白质水平上识别类效应.
主要方法:
- 对PAD,T2D和CAD进行了全转录组 (TWAS) 和全蛋白质组 (PWAS) 关联分析.
- 使用PLACO进行关节类型测试和对遗传共变量的量化贡献.
- 开发了集成的类型模型,包括变体,转录和蛋白质.
主要成果:
- 鉴定了类型的SNP,预测的转录和蛋白质,这些蛋白质有助于PAD和T2D (2.8%) 和PAD和CAD (9.15%) 之间的遗传共变.
- 建立了八个类型模型,提供了多层次的分析框架.
结论:
- 这种多原子方法阐明了PAD与T2D和CAD的共同遗传基础.
- 这些发现有助于更好地了解PAD及其并发症的遗传风险因素,并有可能为治疗策略提供信息.
更多相关视频
07:25Predicting Amputation using Local Circulating Mononuclear Progenitor Cells in Angioplasty-treated Patients with Critical Limb Ischemia
Published on: September 22, 2020
3.5K
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
13.1K
相关概念视频
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
35
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
35
Peripheral Artery Disease I: Introduction
33
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
33
Pleiotropy
41.1K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.1K
Coronary Artery Disease I: Introduction
55
Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
55
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
38
Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
38
Genome-wide Association Studies-GWAS
14.2K
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...
14.2K
