V142I 变异的心血管负担
Senthil Selvaraj1,2, Brian Claggett3, Svati H Shah1,2
1Division of Cardiology, Department of Medicine, Duke University Medical Center, Durham, North Carolina.
JAMA
|May 12, 2024
概括
在黑人中,TTR V142I变体显著增加了心力衰竭 (HF) 和死亡风险. 这种变异与大量生命年数的丧失有关,强调了针对性治疗的必要性.
科学领域:
- 遗传与心血管疾病
- 人口健康和流行病学
背景情况:
- 在美国的黑人中,Transthyretin (TTR) V142I变种普遍存在,并与心力衰竭 (HF) 和死亡风险增加有关.
- 了解载体风险和人群负担对于开发向治疗至关重要.
研究的目的:
- 定义TTR V142I变种携带者在生命中期到晚期的自然历史.
- 评估变异变量,并估计美国黑人群体的心血管疾病负担.
主要方法:
- 分析了4项美国观察研究中的23338名黑人参与者,平均随访时间为15. 5年.
- 根据年龄分别使用10年危险比率评估HF住院和全因死亡率.
- 使用精算方法和美国人口普查数据估计平均生存率和人口负担.
主要成果:
- 在63岁时,V142I携带者身份 (3.2%) 与10年内HF住院的风险增加,而在72岁时,所有原因的死亡率增加.
- 年龄是风险的主要改变因素;寿命减少在1. 9至2. 8年之间.
- 估计有435851名美国黑人携带者 (年龄在50-95岁之间) 可能因这种变异而累计失去超过957000年的生命年限.
结论:
- 携带TTR V142I的人面临着严重的,与年龄相关的HF住院和死亡风险.
- 需要进一步研究以了解V142I变种,血统,种族和心血管疾病健康的社会决定因素的相互作用.
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