rs113477191 - FAM180A
Magnitude 2.2 · 2 studies on file
Reported associations
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Mapping the proteo-genomic convergence of human diseases - Unknown journal (n.d.) · Unknown authors · PubMed 34648354
ABSTRACT: 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 barrie
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Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease - Unknown journal (n.d.) · Unknown authors · PubMed 30177863
ABSTRACT: Diverticular disease is common and morbid. Treatments are limited due to poor understanding of its pathophysiology. To elucidate its etiology, we performed a genome-wide association study of diverticular disease (27,444 cases; 382,284 controls) in the UK Biobank and tested for replication in the Michigan Genomics Initiative (2,572 cases; 28,649 controls). We identified 42 loci associated with diverticular disease, 39 of them novel. Using DEPICT, we show that genes in these associated regions are significantly enriched for expression in mesenchymal stem cells and multiple connective tissue cell types and are co-expressed with genes that play a role in vascular and mesenchymal biology. Genes in these associated loci play roles in immunity, extracellular matrix biology, cell adhesio
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