预测功能丧失变异的关联分析优先考虑了15个基因作为血压调节器
Estelle Lecluze1, Guillaume Lettre1
1Montreal Heart Institute, Montréal, Québec, Canada; Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada.
The Canadian journal of cardiology
|July 14, 2023
概括
这项研究通过分析英国生物库数据中预测的功能丧失变体,确定了15个影响血压的基因. 其中五个基因含有与较低血压相关的变异,为高血压遗传学提供了新的见解.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病 心血管疾病
- 基因组学就是基因组学.
背景情况:
- 高血压是一个主要的全球健康问题,与死亡率和发病率有关.
- 遗传学在血压变化中起着作用,这是由家族史和来自全基因组关联研究 (GWAS) 的1000多个已识别的基因位点所表明的.
- 负责GWAS鉴定血压位的特定基因在很大程度上仍未知.
研究的目的:
- 为了确定影响人类血压变化的特定基因.
- 为了利用预测的功能丧失 (pLoF) 变体在GWAS loci.发现基因.
- 确定新的遗传点,以了解并潜在地治疗高血压.
主要方法:
- 预测功能丧失 (pLoF) 变体在英国生物银行全外因子测序数据集 (n=454,709) 中的分析.
- 在添加和衰退模型下,研究缩/放缩血压和单个pLoF变体之间的遗传关联.
- 检查与血压相关的非常罕见的pLoF变体 (小等位基因频率<0.01%) 的负担.
主要成果:
- 在10个基因 (例如,ANKDD1B,ENPEP,CASP9) 中的单个pLoF变异显示出与血压的显著关联.
- 在5个额外的基因 (如TTN,NOS3,COL21A1) 中,罕见的pLoF变异的负担也与血压有关.
- 大多数已识别的基因在之前识别的GWAS位置附近映射,验证了优先考虑因果基因的pLoF方法.
结论:
- 这项研究强调了15个可能调节人类血压的基因.
- 其中五个基因含有与降低血压相关的功能丧失变体.
- 这项研究提供了针对血压调节和高血压的候选基因的精细列表.
相关概念视频
Hypertension and Regulation of Blood Pressure
2.1K
Hypertension, the most common cardiovascular disease, is diagnosed through repeated measurements of elevated blood pressure. Its risks, including damage to the kidney, heart, and brain, are directly proportional to blood pressure levels. Starting from 115/75 mm Hg, the risk of cardiovascular disease doubles with each increment of 20/10 mm Hg. The diagnosis relies on blood pressure measurements, not on patient symptoms, as hypertension is often asymptomatic until end-organ damage is imminent or...
2.1K
Factors affecting Blood pressure
3.3K
Several physiological and lifestyle factors influence blood pressure (BP). Understanding these factors is crucial as they are significant in patient education and blood pressure management.
Physiological Factors:
Physiological Factors:
3.3K
Neural Regulation of Blood Pressure
2.9K
The neural regulation of blood pressure involves intricate interactions between the autonomic nervous system (ANS) and cardiovascular system, ensuring adequate perfusion of tissues. This regulation primarily occurs through baroreceptor and chemoreceptor reflexes, involving both short-term and long-term mechanisms.
Baroreceptor Reflex
Baroreceptors, located in the carotid sinuses and aortic arch, detect changes in blood pressure. When blood pressure rises, these stretch-sensitive receptors...
Baroreceptor Reflex
Baroreceptors, located in the carotid sinuses and aortic arch, detect changes in blood pressure. When blood pressure rises, these stretch-sensitive receptors...
2.9K
Genome-wide Association Studies-GWAS
13.6K
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...
13.6K
Alterations in Blood Pressure
1.3K
Alterations in blood pressure, such as hypertension (high blood pressure) and hypotension (low blood pressure), significantly affect human health. Understanding these conditions' classifications, causes, and symptoms is essential for effective management and treatment.
Hypertension (High blood pressure)
Hypertension occurs when blood pressure readings consistently exceed the normal range. It is diagnosed when systolic blood pressure (the top number, indicating pressure while the heart...
Hypertension (High blood pressure)
Hypertension occurs when blood pressure readings consistently exceed the normal range. It is diagnosed when systolic blood pressure (the top number, indicating pressure while the heart...
1.3K
Hormonal Regulation of Blood Pressure
2.7K
Endocrinal or hormonal intervention in the cardiovascular system is predominantly exerted by the catecholamines - epinephrine and norepinephrine, as well as a slew of hormones that interact with renal function to modulate blood volume.
Epinephrine and Norepinephrine
The adrenal medulla releases epinephrine and norepinephrine, catecholamines that enhance and extend the sympathetic or "fight or flight" physiological response. These hormones escalate heart rate and the force of contraction...
Epinephrine and Norepinephrine
The adrenal medulla releases epinephrine and norepinephrine, catecholamines that enhance and extend the sympathetic or "fight or flight" physiological response. These hormones escalate heart rate and the force of contraction...
2.7K


