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相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Antihypertensive Drugs: Angiotensin-Converting Enzyme Inhibitors01:30

Antihypertensive Drugs: Angiotensin-Converting Enzyme Inhibitors

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Angiotensin-converting enzyme (ACE), a vital component of the renin-angiotensin-aldosterone system, is abundant in lung endothelial cells. ACE converts the inactive decapeptide, angiotensin I, into the active octapeptide, angiotensin II. This potent vasoconstrictor narrows blood vessels, increasing resistance to blood flow and elevating blood pressure. Angiotensin II also stimulates aldosterone production, encouraging kidney cells to reabsorb more sodium and water from urine, thereby increasing...
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Antihypertensive Drugs: Angiotensin II Receptor Blockers01:30

Antihypertensive Drugs: Angiotensin II Receptor Blockers

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In the renin-angiotensin-aldosterone system, a hormone called angiotensin II plays a crucial role. It binds to the AT1 receptors in vascular smooth muscles coupled with Gq proteins. The activation of these receptors activates an enzyme called phospholipase C, which releases two molecules: inositol trisphosphate and diacylglycerol. These molecules cause a chain reaction that leads to the phosphorylation of myosin light chains and promotes interaction between actin and myosin, leading to smooth...
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Heart Failure Drugs: Inhibitors of Renin-Angiotensin System01:26

Heart Failure Drugs: Inhibitors of Renin-Angiotensin System

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The activation of the sympathetic nervous system and the renin-angiotensin-aldosterone system (RAAS) contributes to cardiac remodeling, and inhibiting the RAAS is a pharmacological target in heart failure management. As a result, neurohumoral modulation is a crucial treatment principle for managing heart failure. This approach involves using medications like ACE inhibitors (ACEIs), angiotensin receptor blockers (ARBs), β-blockers, mineralocorticoid receptor antagonists (MRAs), and neutral...
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Hypertension II: Pathophysiology01:29

Hypertension II: Pathophysiology

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Hypertension is a chronic condition in which the blood's force against artery walls is excessively high, posing risks such as heart disease. The condition's underlying mechanisms involve complex interactions among the cardiovascular, kidney, and autonomic nervous systems.Renin-Angiotensin-Aldosterone System (RAAS): This system significantly influences blood pressure regulation. When blood pressure decreases, the kidneys secrete renin. This enzyme transforms angiotensinogen, a plasma protein,...
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血管新素转化酶2基因多态和全身性硬化症之间的相关性

Bartosz Miziołek1, Celina Kruszniewska-Rajs2, Joanna Gola2

  • 1Department of Dermatology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland. bmiziolek@gmail.com.

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血管激素转化酶2 (ACE2) 基因的遗传变异与系统性硬化症 (SSc) 的发展和心血管风险有关. 特定的ACE2多态影响了SSc患者的动脉高血压和疾病特征.

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科学领域:

  • 遗传学 是一个遗传学.
  • 心血管医学 心血管医学
  • 类风湿病学 类风湿病学

背景情况:

  • 系统性硬化症 (SSc) 是一种结缔组织疾病,其特征是心血管功能受损.
  • 血管素转化酶2 (ACE2) 基因的多态性与各种人群中的动脉高血压 (AH) 和心血管疾病 (CVS) 有关.

研究的目的:

  • 研究ACE2基因的三个单核酸多态 (SNP) (rs879922,rs2285666和rs1978124) 与SSc.的发展之间的关联.
  • 探索这些ACE2多态和SSc患者的临床表现之间的关系.

主要方法:

  • 从SSc患者的全血样本中提取了基因组DNA.
  • 对rs1978124的基因定型使用限制片段长度多态进行,而rs879922和rs2285666则使用TaqMan SNP基因定型试验检测.
  • 血清ACE2水平使用ELISA测试来量化.

主要成果:

  • rs879922的C等位基因与AH风险增加有关 (OR=2.5,p=0.018),但关节参与较少.
  • 对rs2285666的基因组A携带者表现出更早出现雷诺现象和SSc的趋势,CVS疾病的风险较低 (RR=0.4,p=0.051) 和胃肠道干扰较少.
  • 具有rs1978124的AG基因型的女性表现出更频繁的指尖和较低的血清ACE2水平.

结论:

  • 在SSc患者中,ACE2基因多态可能会导致AH和CVS疾病的发展.
  • 特定的ACE2多态性与SSc的独特临床特征有关,包括大血管参与.
  • 需要进行进一步的研究,以阐明ACE2多形态在SSc.病变发生和临床过程中的重要性.