Expressive

rs1032859 - TNFAIP8

Magnitude 4.5 · 2 studies on file

Reported associations

  • Mapping the proteo-genomic convergence of human diseases. - Science (New York, N.Y.) (2021) · Pietzner M, Wheeler E, Carrasco-Zanini J, Cortes A, Koprulu M, Wörheide MA, Oerton E, Cook J, Stewart ID, Kerrison ND, Luan J, Raffler J, Arnold M, Arlt W, O'Rahilly S, Kastenmüller G, Gamazon ER, Hingorani AD, Scott RA, Wareham NJ, Langenberg C · PubMed 34648354

    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,

  • A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. - Genes, brain, and behavior (2015) · Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A, Hoogman M, Arias-Vásquez A, Yang Y, Buitelaar J, Fernández G, Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, Homuth G, Fisher SE, Grabe HJ, Francks C, Hagoort P · PubMed 25130324

    Heschl's gyrus (HG) is a core region of the auditory cortex whose morphology is highly variable across individuals. This variability has been linked to sound perception ability in both speech and music domains. Previous studies show that variations in morphological features of HG, such as cortical surface area and thickness, are heritable. To identify genetic variants that affect HG morphology, we conducted a genome-wide association scan (GWAS) meta-analysis in 3054 healthy individuals using HG surface area and thickness as quantitative traits. None of the single nucleotide polymorphisms (SNPs) showed association P values that would survive correction for multiple testing over the genome. The most significant association was found between right HG area and SNP rs72932726 close to gene DCBL

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