Mapping the proteo-genomic convergence of human diseases

Maik Pietzner, Eleanor Wheeler, Julia Carrasco-Zanini, Adrian Cortes, Mine Koprulu, Maria Worheide, Erin Oerton, James Cook, Isobel Stewart, Nicola Kerrison, Jian'an Luan, Johannes Raffler, Matthias Arnold, Wiebke Arlt, Stephen O'Rahilly, Gabi Kastenmüller, Eric R Gamazon, Aroon D Hingorani, Robert Scott, Nicholas J WarehamClaudia Langenberg

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Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic associations for 3,892 plasma proteins to create a cis-anchored gene-protein-disease map of 1,859 connections that highlights strong cross-disease biological convergence. This proteo-genomic map provides a framework to 1) connect etiologically related diseases, 2) provide biological context for new or emerging disorders, and 3) 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 GWAS loci, addressing a major barrier for experimental validation and clinical translation of genetic discoveries.
Original languageEnglish
Article numbereabj1541
Issue number6569
Early online date14 Oct 2021
Publication statusE-pub ahead of print - 14 Oct 2021


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