纽约市代表性不足的创始人群体的遗传疾病风险
Mariko Isshiki1,2, Anthony J Griffen3, Paul Meissner4,5
1Departments of Genetics, Albert Einstein College of Medicine, Bronx, New York, United States of America.
PLoS genetics
|June 24, 2025
概括
研究人员在纽约市确定了七个创始人群体,包括像波多黎各和加里富纳社区这样代表性不足的群体. 他们发现了201种有害的基因变异,其中许多是这些人群的新发现,提供了潜在的医疗保健益处,但也存在污名化的风险.
科学领域:
- 基因组学就是基因组学.
- 人口遗传学 人口遗传学
- 医学遗传学 医学遗传学
背景情况:
- 创始病原体变异可以改善特定社区的医疗保健服务.
- 识别这些变异需要了解共同的祖先和人口结构.
研究的目的:
- 为了确定纽约市的创始人种群和致病变体.
- 评估与在代表性不足的群体中发现这些变异相关的潜在医疗保健益处和风险.
主要方法:
- 利用来自我们所有人研究计划和西奈山BioMe生物库的25366名居民的基因组数据.
- 根据血统认同 (IBD) 分段,确定了16个具有共同祖先的群体.
- 定义了7个创始人种群,并对ClinVar致病或可能致病 (P/LP) 变体进行了丰富分析.
主要成果:
- 确定了7个创始人群体,包括像波多黎各和加里富纳这样代表性不足的社区.
- 在这些种群中发现了201种破坏性变异,其中许多以前与创始人效应无关.
- 确定了22种符合Tier 2产前查标准的新型变异,其载体频率为1/100.
结论:
- 人口结构研究可以揭示影响代表性不足的人口的罕见疾病的洞察力.
- 发现创始人变体提供了医疗保健的好处,但需要社区参与,以减轻污名化.
- 强调需要仔细地将遗传发现应用于各种社区的医疗保健服务.
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