Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with somatic mutations that is associated with an increased risk of haematological malignancies, cardiovascular disease and all-cause mortality. CH may be caused by point mutations in genes associated with myeloid neoplasms, chromosomal copy number changes and loss of heterozygosity events. How inherited and environmental factors shape the incidence of CH is incompletely understood. Even though the several varieties of CH may have distinct phenotypic consequences, recent research points to an underlying genetic architecture that is highly overlapping. Moreover, there are numerous commonalities between the inherited variation associated with CH and that which has been linked to age-associated biomarkers and diseases. In this Review, we synthesize what is currently known about how inherited variation shapes the risk of CH and how this genetic architecture intersects with the biology of diseases that occur with ageing.

克隆性造血 (CH) 是一种常见的、与年龄相关的血细胞扩张，具有体细胞突变，与血液恶性肿瘤、心血管疾病和全因死亡率的风险增加有关。CH 可能由与骨髓肿瘤相关的基因点突变、染色体拷贝数变化和杂合性丢失事件引起。遗传和环境因素如何影响 CH 的发病率尚不完全清楚。尽管 CH 的几个变种可能具有不同的表型结果，但最近的研究指出了一种高度重叠的潜在遗传结构。此外，与 CH 相关的遗传变异与与年龄相关的生物标志物和疾病相关的遗传变异之间存在许多共性。在这篇评论中，