患有糖尿病的HeFH和CAD中的E670G PCSK9多态性:通往个性化治疗的桥梁是否可达?
Rano Alieva1, Aleksandr Shek1, Alisher Abdullaev2
1CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.
Frontiers in clinical diabetes and healthcare
|November 29, 2023
概括
PCSK9 E670G基因的G等位基因与冠状动脉疾病 (CAD) 患者的2型糖尿病 (T2DM) 风险更高有关,特别是那些患有异性家族高胆固醇血症 (HeFH) 患者. 这一发现对于了解心血管疾病患者的遗传倾向具有重要意义.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 内分泌学 在内分泌学.
背景情况:
- 冠状动脉疾病 (CAD) 和异位家族高胆固醇血症 (HeFH) 是重要的心血管疾病.
- PCSK9遗传变异在疾病发展中的作用,特别是与同时发生的2型糖尿病 (T2DM) 需要进一步调查.
研究的目的:
- 评估PCSK9 E670G遗传多态性和PCSK9水平在患有CAD和HeFH的患者中的分布.
- 确定这些因素与乌兹别克斯坦人口中T2DM存在的关联.
主要方法:
- 在201名CAD患者中使用PCR-RFLP进行PCSK9 E670G (rs505151) 多态的基因定型 (包括57名HeFH患者).
- 使用DLCN标准评估PCSK9水平和诊断HeFH.
- 统计分析用于比较基因型频率,等位基因分布和临床结果.
主要成果:
- 与非HeFH患者和对照患者相比,PCSK9 E670G的G等位基因在HeFH患者中更频繁,尽管在统计学上不显著.
- 在HeFH患者中,PCSK9水平较高,而非HeFH患者没有服用他类药物.
- 在HeFH组中,AG+GG基因型的携带者显示T2DM (RR4.18),心肌梗塞 (RR1.79) 和再血管 (RR12.6) 的风险明显更高.
- 在非HeFH患者中,T2DM在G等位基载体中也更常见 (RR 1.85).
结论:
- 在乌兹别克斯坦人群中,PCSK9 E670G多态的"功能获取"G基因基因与T2DM在患有CAD的患者中更高的患病率显著相关,包括HeFH和没有HeFH的患者.
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