在埃及人中,Apo B,LDL-R和PCSK9基因多态与冠状动脉疾病的关联
Nancy Mahsoub1, Ahmed Almenshawy1, Ahmed Mohammad Taki Eldin1
1Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Molecular biology reports
|June 14, 2024
概括
在SMARCA4和PCSK9基因中的单核酸多态 (SNP) 与埃及人的冠状动脉疾病 (CAD) 风险有关. ApoB XbaI X+X+基因型可以提供对CAD的保护.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病研究研究
- 分子生物学分子生物学
背景情况:
- 脂质调节基因在冠状动脉疾病 (CAD) 病理生理学中发挥作用.
- ApoB XbaI (rs693) 和EcoRI (rs1042031) 单核酸多态 (SNP) 与CAD风险之间的关联仍然不确定.
- SMARCA4 (rs1122608) 与脂质障碍症有关,而PCSK9功能丧失突变可以预防CAD.
研究的目的:
- 研究ApoB,SMARCA4和PCSK9基因中的特定SNP与患CAD的风险之间的关联.
- 确定这些遗传变异在埃及人口中的潜在作用.
主要方法:
- 54名CAD患者和47名健康对照者的基因定型使用聚合酶链反应-限制片段长度多态 (PCR-RFLP).
- 对ApoB XbaI (rs693),ApoB EcoRI (rs1042031),SMARCA4 (rs1122608) 和PCSK9 (rs505151) SNPs进行分析.
- 在CAD患者和健康对照者之间对基因型和等位基因频率的比较.
主要成果:
- 患者和对照组之间的EcoRI SNP频率没有显著差异.
- 在对照组中,ApoB XbaI X+X+基因型明显更为普遍 (P=0.0355),这表明它具有保护作用.
- 在CAD患者中,SMARCA4 (TT,GT+TT基因型,T等位基因) 和PCSK9 (AG基因型,G等位基因) 的发生率显著增加 (分别P<0.001和P=0.027/0.032).
结论:
- 在埃及人群中,SMARCA4 (rs1122608) 和PCSK9 (rs505151) SNPs与CAD风险有显著的关联.
- ApoB XbaI X+X+基因型可能会对CAD产生保护作用.
- 在ApoB EcoRI (rs1042031) SNP和CAD风险之间没有发现任何关联.
相关概念视频
Blood Studies for Cardiovascular System III: Serum Lipid Profile
154
Understanding serum lipids is crucial for maintaining cardiovascular health and preventing heart disease and stroke.
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
154
Cholesterol: Significance and Regulation
535
Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
Considering cholesterol and...
535
Lipids: Dietary Sources and Requirements
723
Lipids are an essential component of a balanced human diet. Triglycerides, which make up the majority of dietary lipids, are found in both saturated fats—commonly present in meat, dairy products, and certain tropical plants like coconut, and hydrogenated oils such as margarine and baking shortenings (trans fats)—and unsaturated fats, which are abundant in seeds, nuts, olive oil, and most vegetable oils. The main sources of cholesterol include egg yolks, various meats and organ...
723


