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通过组织和细胞类型特定的功能注释,提高心脏代谢特征的多基因分数

Kristjan Norland¹, Daniel J Schaid², Iftikhar J Kullo³

¹Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.

|March 27, 2025

概括

功能性基因组注释增强了心脏代谢特征的多基因分数 (PGS). 组织特异性数据显示出强烈的遗传性丰富,但在预测准确度方面,与一般注释相比,提供了边际收益.

科学领域:

基因组学就是基因组学.
心血管遗传学心血管遗传学
代谢性疾病研究研究

背景情况:

多基因分数 (PGS) 使用全基因组关联研究 (GWAS) 数据预测复杂的特征.
一般的基因组注释改善了PGS,但特定于组织和细胞类型的注释可能会进一步增强心脏代谢特征.

研究的目的:

评估功能性基因组注释,包括组织特异性数据,对14种心脏代谢特征的多基因分数发展的影响.
用不同的注释策略和变量集构建的PGS的性能进行比较.

主要方法:

在英国生物银行使用SBayesRC开发了14种心脏代谢特征的多基因分数 (PGS).
综合GWAS总结统计与一般注释 (基线LD),细胞类型特定的snATAC-seq峰值和组织特定的eQTL/sQTL.
使用了两个欧洲 (欧元) LD 参考面板:HapMap3 (1.2M 变体) 和7M 计数变体.

主要成果:

组织和细胞类型特定的注释显示出比一般注释更强的遗传性丰富.
在使用所有注释时,7M变体的PGS显著优于HapMap3变体的PGS (8%的平均增长在欧元).
与没有注释相比,所有注释策略都改善了PGS性能,一般和所有注释为7M变体集带来了最大的收益.

结论:

功能性基因组注释有效地改善了心脏代谢特征的多基因分数.
虽然组织和细胞类型特定的注释显示了高遗传性丰富性,但它们的性能优势相比一般的注释是边际的.
注释改善了跨祖先预测,但并没有减少遗传祖先群体之间的表现差异.

关键词:

英国生物银行心脏代谢特征心脏代谢特征功能性注释功能性注释多基因分数的多基因分数

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