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Updated: May 16, 2025
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周围血液的体质马赛克主义和跨祖先背景的克隆性血液形成
Christelle Colin-Leitzinger1, Yi-Han Tang1,2, Mingxiang Teng2
1Department of Cancer Epidemiology, Moffitt Cancer Center and Research Institute, Tampa, FL.
medRxiv : the preprint server for health sciences
|April 1, 2025
概括
阴性马赛克 (SM) 和克隆性血液形成 (CH) 的患病率在不同祖先和性别之间有很大的差异. 了解这些遗传差异对于个性化医学和癌症研究至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
- 在瘤学瘤学.
背景情况:
- 阴性马赛克 (SM) 和克隆性血液形成 (CH) 是血液细胞中与年龄相关的遗传变化.
- 血栓炎与血液恶性瘤和心血管疾病的风险增加有关.
- 现有的CH研究严重偏向于欧洲血统的个人.
研究的目的:
- 在不同的遗传祖先中对体性马赛克和克隆性血液形成变异进行分类.
- 为了调查不同祖先群体中CH和髓状/淋巴状CH (M-CHIP/L-CHIP) 变异的患病率.
- 探索CH变体与癌症的关联,包括固体瘤和血液恶性瘤.
主要方法:
- 来自125,748个不同祖先的个体的外周血液的整体外基因组测序.
- 使用低变异异基因频率分布识别SM突变.
- 基于年龄扭曲和分析M-CHIP和L-CHIP中致病变异的基础上检测CH变异.
- 将CH变体与癌症数据库联系起来,以评估瘤的流行率.
主要成果:
- 编目了超过50万个SM突变和89000个CH变异.
- 欧洲非芬兰血统的个人中CH和M-CHIP变异最为普遍;男性显示出更多M-CHIP变异的趋势.
- 在CH变种流行率 (例如,非洲/非洲裔美国人的NF1,欧洲人的TP53,亚洲/拉丁裔人的CUX1) 中观察到显著的祖先特异性差异.
- 在14%的患者瘤中发现了CH变异,在一些固体瘤中占25-40%的流行率.
- 固体瘤中的M-CHIP变体与血液恶性瘤相比,诊断时的年龄较小有关.
结论:
- 这项研究提供了SM,CH和CHIP变体在不同人群中的全面目录.
- 鉴定了CH患病率和特定基因突变的显著祖先和基于性别的差异.
- 研究结果强调了在临床护理,药物发现和研究设计中考虑遗传多样性的重要性.
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