根据人口遗传学分析,更新了·维勒布兰德病的全球流行率和种族多样性
Omid Seidizadeh1,2, Andrea Cairo3, Camilla Oriani3
1Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy. omid.seidizadeh@unimi.it.
Scientific reports
|January 20, 2026
概括
·威尔布兰德病 (VWD) 是最常见的遗传性出血障碍,其患病率比以前认为的要高. 这项遗传流行病学研究揭示了跨种族群体的显著差异,表明许多病例仍未被诊断出来.
科学领域:
- 遗传学 是一个遗传学.
- 流行病学 流行病学
- 血液学 血液学 血液学
背景情况:
- ·威尔布兰德病 (VWD) 是最常见的遗传性出血障碍.
- 关于其全球流行率和跨种族群体的表型分布存在不确定性.
研究的目的:
- 估计VWD表型的全球流行率和种族分布.
- 利用遗传流行病学进行精确的人口规模的VWD流行率评估.
主要方法:
- 利用了gnomAD-v4.1数据库中的807,162名受试者的外体/基因组测序数据.
- 分析了321种已知的VWF病原性变体的等位基频率.
- 包括3型VWD估计的结构和副本数量变体.
主要成果:
- 估计每1000人中全球VWD患病率为10.6 (类型 1),1.3 (2A),1.7 (2B),1.5 (2M).
- 估计每百万人的全球流行率:33.9 (类型2N),1.3-1.8 (类型3).
- 在不同族群中观察到VWD患病率的显著差异.
结论:
- 基于人口的遗传流行率表明VWD的频率远高于此前的预期.
- 许多患有VWD的个体可能仍未被诊断出来.
- 更新的流行数据需要重新评估VWD查和诊断策略.
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