遗传性血栓性血栓性性紫外线的全球患病率通过基因分析确定

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Omid Seidizadeh¹, Andrea Cairo², Ilaria Mancini²

¹Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

|June 27, 2024

概括

遗传性血栓性血栓塞性紫外线 (hTTP) 比以前认为的更为常见,遗传数据表明患病率明显高于确诊病例. 这表明许多HTTP患者可能仍然未被诊断或在婴儿期死亡.

科学领域:

遗传学遗传学是一个
血液学血液学血液学
流行病学流行病学

背景情况:

遗传性血栓性血栓塞性紫 (hTTP) 是一种罕见的,严重的疾病,由ADAMTS13缺乏引起.
目前的患病率估计是基于被诊断的患者,可能低估了HTTP的真正负担.

研究的目的:

准确评估全球和种族特异性hTTP的流行情况.
使用大规模的基因组数据识别和描述与HTTP相关的ADAMTS13变异.

主要方法:

在gnomAD-v4.1数据库中分析了807162名受试者的外体和基因组测序数据.
识别和分类ADAMTS13变异,区分之前报告的和新型致病变异.

主要成果:

鉴定了超过6300种不同的ADAMTS13变种,其中758种被归类为致病性 (140种先前报告,618种新型).
据估计,使用所有致病变体的全球hTTP患病率为40/106,远远高于确诊病例.
患病率因种族而异,东亚人根据报告的变种显示出最高估计的患病率 (42 per 10^6).

结论:

当前的临床诊断大大低估了HTTP的遗传患病率.
有相当数量的hTTP病例可能未被诊断,特别是那些具有新型变异或新生儿时期的病例.
基于人口的遗传数据为HTTP流行病学提供了更准确的画面.

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