PDF(Pubmed)
Abstract：
Clonal hematopoiesis (CH) is an age-dependent process detectable using advanced sequencing technologies and is associated with multiple adverse health outcomes including cardiovascular disease and cancer. The purpose of this review is to summarize known causes of CH mutations and to identify key areas and considerations for future research on CH.
Studies have identified multiple potential causes of CH mutations including smoking, cancer therapies, cardiometabolic disease, inflammation, and germline risk factors. Additionally, large-scale studies have facilitated the identification of gene-specific effects of CH mutation risk factors that may have unique downstream health implications. For example, cancer therapies and sources of environmental radiation appear to cause CH through their impact on DNA damage repair genes. There is a growing body of evidence defining risk factors for CH mutations. Standardization in the identification of CH mutations may have important implications for future research. Additional studies in underrepresented populations and their diverse environmental exposures are needed to facilitate broad public health impact of the study of CH mutations.
Studies have identified multiple potential causes of CH mutations including smoking, cancer therapies, cardiometabolic disease, inflammation, and germline risk factors. Additionally, large-scale studies have facilitated the identification of gene-specific effects of CH mutation risk factors that may have unique downstream health implications. For example, cancer therapies and sources of environmental radiation appear to cause CH through their impact on DNA damage repair genes. There is a growing body of evidence defining risk factors for CH mutations. Standardization in the identification of CH mutations may have important implications for future research. Additional studies in underrepresented populations and their diverse environmental exposures are needed to facilitate broad public health impact of the study of CH mutations.
摘要：
目的：克隆造血（CH）是一种使用先进测序技术可检测的年龄依赖性过程，与多种不良健康结局相关，包括心血管疾病和癌症。这篇综述的目的是总结CH突变的已知原因，并确定CH未来研究的关键领域和注意事项。
结果：研究已经确定了CH突变的多种潜在原因，包括吸烟，癌症治疗,心脏代谢疾病，炎症,和种系风险因素。此外,大规模研究促进了对CH突变危险因素的基因特异性效应的鉴定,这些危险因素可能具有独特的下游健康影响.例如,癌症疗法和环境放射源似乎通过对DNA损伤修复基因的影响而导致CH。越来越多的证据确定了CH突变的危险因素。CH突变鉴定的标准化可能对未来的研究具有重要意义。需要在代表性不足的人群及其不同的环境暴露中进行其他研究，以促进CH突变研究对公共卫生的广泛影响。
结果：研究已经确定了CH突变的多种潜在原因，包括吸烟，癌症治疗,心脏代谢疾病，炎症,和种系风险因素。此外,大规模研究促进了对CH突变危险因素的基因特异性效应的鉴定,这些危险因素可能具有独特的下游健康影响.例如,癌症疗法和环境放射源似乎通过对DNA损伤修复基因的影响而导致CH。越来越多的证据确定了CH突变的危险因素。CH突变鉴定的标准化可能对未来的研究具有重要意义。需要在代表性不足的人群及其不同的环境暴露中进行其他研究，以促进CH突变研究对公共卫生的广泛影响。
