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在一个多样化的电子健康记录链接生物库中,不断发展的与TTR p.(Val142Ile) 相关的红旗临床特征知识

Amy R Kontorovich¹, Connor B Benson², Alexandra McClellan²

¹The Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY; The Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, NY; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.

Genetics in medicine : official journal of the American College of Medical Genetics

|December 19, 2024

概括

TTR p. ((Val142Ile) 变种与早发性心力衰竭和神经损伤有关,特别是在老年人中. 识别这些红旗有助于早期诊断遗传性转基因氨基粉症 (ATTRv).

科学领域:

遗传学和基因组学遗传学和基因组学
心脏病学心脏病学
神经学神经学

背景情况:

遗传性转基因氨基粉症 (ATTRv) 诊断依赖于确定临床红旗.
TTR p. ((Val142Ile) 变异是ATTRv的最常见原因,但该变异的特定红旗需要评估.

研究的目的:

评估与TTR p.(Val142Ile) 变种相关的临床特征.
确定这些特征与TTR p.(Val142Ile) 变体的年龄相关关系.

主要方法:

利用一个祖先多样化的电子健康记录链接生物库与外体序列数据.
分析了27,630名无血缘关系的成年人,比较了337名TTR p.
评估了九种与ATTRv相关的临床特征,包括心肌病/心力衰竭,心房动,多神经病,手腕道综合征和蛋白尿.

主要成果:

在60岁及以上的个体中,TTR p.(Val142Ile) 与心肌病/心力衰竭,心房动,多神经病,手腕道综合征和蛋白尿的几率增加有关.
这些特征在变异阳性个体中出现的时间较早1.7至7.7年.
到50岁时,心肌病/心力衰竭的累积发病率是3.5倍高;到60岁时,心肌病/心力衰竭,多神经病和蛋白尿的发病率在变异阳性个体中是2倍高.

结论:

鉴定了与TTR p.(Val142Ile) 变种相关的年龄相关的临床红旗.
鉴于现有的修饰疗法,在变异阳性个体中早期诊断ATTRv至关重要.
识别关键的临床特征可促进ATTRv的及时诊断和干预.

关键词:

氨基粉症是什么氨基粉症是什么心肌病是一种心肌病.基因组查是指基因组查.心脏衰竭是因为心脏衰竭.转甲基素是一种转甲基素.

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