在自发冠状动脉剖析的家庭中存在多基因风险
Ingrid Tarr1, Stephanie Hesselson1, Michael Troup1
1Victor Chang Cardiac Research Institute, Darlinghurst, Australia.
JAMA cardiology
|January 24, 2024
概括
常见的遗传因素显著增加了自发冠状动脉解剖 (SCAD) 的风险,无论是在家庭中还是偶发的病例中. 结合组织疾病基因的罕见变异并不是主要的贡献者.
科学领域:
- 心血管遗传学 心血管遗传学
- 基因组学就是基因组学.
- 精准医学是一门精准的医学.
背景情况:
- 自发冠状动脉解剖 (SCAD) 是急性冠状动脉综合征的一个未被认可的原因,主要影响女性.
- 遗传因素被怀疑起作用,但它们的贡献,特别是在家族SCAD中,仍然不清楚.
研究的目的:
- 调查罕见和常见遗传变异在SCAD风险中的作用.
- 为了比较家族病例,零星病例和健康对照中的SCAD多基因风险评分 (PRS).
主要方法:
- 一项涉及SCAD家庭,偶发SCAD个体和健康对照者的遗传关联研究.
- 计算一个7个单核酸变异的SCAD特异性多基因风险评分 (PRS).
- 评估与结合组织疾病 (CTD) 相关的基因的罕见变异.
主要成果:
- 与对照组相比,SCAD多基因风险评分 (PRS) 与家族性和零星性SCAD的几率增加有显著的关联.
- 患有家族性SCAD和零星性SCAD的个体在最高的PRS五分位数中过度代表.
- 在受影响的家庭成员中,没有在CTD相关基因中发现共享的罕见有害变异.
结论:
- 根据PRS测量,常见的遗传变异在家族和零星情况下都对SCAD倾向有显著的贡献.
- SCAD的遗传结构似乎是由常见变异驱动的,而不是CTD基因中的罕见变异.
更多相关视频
相关概念视频
Genome-wide Association Studies-GWAS
13.4K
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...
13.4K
Pedigree Analysis
84.3K
Overview
84.3K
Psychoneuroimmunology: Cardiovascular Disease
31
Psychoneuroimmunology (PNI) is a multidisciplinary field that examines how psychological factors, particularly stress, interact with the immune system and impact physical health. Research in PNI has shown that chronic or traumatic stress can disrupt both the hypothalamic-pituitary-adrenal axis and the sympathetic nervous system. These disruptions contribute to serious health conditions, including cardiovascular diseases.
A key area of focus in PNI is the relationship between stress and coronary...
A key area of focus in PNI is the relationship between stress and coronary...
31
Single Nucleotide Polymorphisms-SNPs
15.1K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.1K
Sex-linked Disorders
102.1K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.1K
Probability Laws
40.8K
Overview
40.8K


