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Mapping the proteo-genomic convergence of human diseases
Science  (IF47.728),  Pub Date : 2021-10-14, DOI: 10.1126/science.abj1541
Maik Pietzner, Eleanor Wheeler, Julia Carrasco-Zanini, Adrian Cortes, Mine Koprulu, Maria A. Wörheide, Erin Oerton, James 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

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.