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多祖先全基因组分析确定了自我报告的睡眠持续时间的共同遗传效应和共同遗传变异
B H Scammell1,2, C Tchio1,2,3,4, Y Song1,2
1Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02215, USA.
Human molecular genetics
|June 29, 2023
概括
影响睡眠时间的遗传因素在不同的人群中部分共享. 基于与睡眠持续时间相关的欧洲祖先单核酸多态 (SNP) 的多基因评分显示了跨祖先的适用性,有助于理解睡眠.
科学领域:
- 遗传学 是一个遗传学.
- 睡眠医学 睡眠医学
- 人口健康 人口健康
背景情况:
- 短时间和长时间的睡眠时间与慢性疾病风险有关.
- 睡眠时间的遗传基因尚未得到充分了解,尤其是在非欧洲人群中.
- 习惯性睡眠时间会影响整体健康状况.
研究的目的:
- 在全球不同的人口中调查习惯性睡眠时间的遗传决定因素.
- 评估多基因分数对不同祖先群体睡眠时间的可转移性.
- 为了确定与睡眠持续时间相关的新型遗传位置.
主要方法:
- 在非洲,东亚,南亚和西班牙裔/拉丁裔群体中测试了一种包含78个欧洲祖先单核酸多态 (SNP) 的多基因评分.
- 进行了一项大规模的全祖先全基因组关联研究 (GWAS) 分析 (N=483,235) 进行了习惯性睡眠时间.
- 对表达量性特征位点 (eQTL) 分析和类关联进行了检查,以确定有意义的位点.
主要成果:
- 来自欧洲的多基因分数与非洲,东亚和南亚队列的睡眠时间有显著的关联,但在西班牙裔/拉丁裔队列中没有.
- 全祖先GWAS确定了73个与全基因组意义上的睡眠时间相关的新型位置.
- 随访分析显示,大脑组织中PRR12和COG5的表达-定量特征位点,与心血管和神经精神病特征的类关联.
结论:
- 在某种程度上,睡眠时间的遗传结构在不同的人群中是共同的.
- 来自一个祖先群体的多基因分数可能在其他群体中具有预测价值,尽管存在祖先特异性的影响.
- 已经确定了影响睡眠时间及其相关健康状况的新基因和途径.
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