疾病
计算生物学
背景(考古学)
生物
注释
基因组学
翻译(生物学)
基因注释
人类基因组
基因组
遗传学
基因
医学
信使核糖核酸
病理
古生物学
作者
Maik Pietzner,Eleanor Wheeler,Julia Carrasco-Zanini,Adrián Cortés,Mine Koprulu,Maria A. Wörheide,Erin Oerton,James D. Cook,Isobel D. Stewart,Nicola D. Kerrison,Jian’an Luan,Johannes Raffler,Matthias Arnold,Wiebke Arlt,Stephen O’Rahilly,Gabi Kastenmüller,Eric R. Gamazon,Aroon D. Hingorani,Robert A. Scott,Nicholas J. Wareham,Claudia Langenberg
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2021-11-12
卷期号:374 (6569)
被引量:201
标识
DOI:10.1126/science.abj1541
摘要
Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic associations for 3892 plasma proteins to create a cis-anchored gene-protein-disease map of 1859 connections that highlights strong cross-disease biological convergence. This proteo-genomic map provides a framework to connect etiologically related diseases, to provide biological context for new or emerging disorders, and to integrate different biological domains to establish mechanisms for known gene-disease links. Our results identify proteo-genomic connections within and between diseases and establish the value of cis-protein variants for annotation of likely causal disease genes at loci identified in genome-wide association studies, thereby addressing a major barrier to experimental validation and clinical translation of genetic discoveries.
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