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通过聚合单细胞CRISPR查,在GWAS位点发现目标基因和通路

John A Morris^1,2, Christina Caragine^1,2, Zharko Daniloski^1,2

¹New York Genome Center, New York, NY 10013, USA.

Science (New York, N.Y.)

|May 4, 2023

概括

研究人员确定了与复杂特征和疾病相关的非编码变体的目标基因. 这项工作揭示了非编码DNA中的遗传变异如何影响基因表达和疾病风险.

科学领域:

基因组学
分子生物学
遗传学

背景情况:

全基因组关联研究 (GWAS) 识别与复杂特征和疾病相关的遗传变异.
大多数已识别的变异存在于未知功能影响的非编码区域.

研究的目的:

从GWAS中识别非编码变异的目标基因.
阐明非编码变体影响基因表达和复杂特征的机制.

主要方法:

使用祖先多样化的生物库规模GWAS数据.
使用大量并行CRISPR屏幕和单细胞转录组/蛋白组测序.
使用基因编辑进行精确的变体插入,以将变体与基因表达变化联系起来.

主要成果:

发现了91个非编码血液特征GWAS位点的124个cis目标基因.
识别了影响转录因子或微RNA的非编码位置的转变效应网络.
通过这些网络向复杂的特征证明了多基因的贡献.

结论:

开发了一个用于大规模并行表征非编码变体目标和机制的平台.
将特定的非编码变体与基因表达变化和复杂的特征网络联系起来.
提供了关于非编码变体对人类疾病的影响的见解.

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相关概念视频

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...