{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Liu L"],"funding":["NCATS NIH HHS","NIDDK NIH HHS","NIAID NIH HHS","NCI NIH HHS","NIGMS NIH HHS"],"pubmed_abstract":["IgA vasculitis (IgAV) is a pediatric disease with skin and systemic manifestations. Here, we conducted genome, transcriptome, and proteome-wide association studies in 2,170 IgAV cases and 5,928 controls, generated IgAV-specific maps of gene expression and splicing from blood of 255 pediatric cases, and reconstructed myeloid-specific regulatory networks to define disease master regulators modulated by the newly identified disease driver genes. We observed significant association at the <i>HLA</i>-<i>DRB1</i> (OR=1.55, P=1.1×10<sup>-25</sup>) and fine-mapped specific amino-acid risk substitutions in DRβ1. We discovered two novel non-HLA loci: <i>FCAR</i> (OR=1.51, P=1.0×10<sup>-20</sup>) encoding a myeloid IgA receptor FcαR, and <i>INPP5D</i> (OR=1.34, P=2.2×10<sup>-9</sup>) encoding a known"],"journal":["medRxiv : the preprint server for health sciences"],"pagination":["2024.10.10.24315041"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11482997"],"repository":["biostudies-literature"],"pubmed_title":["Genome-wide studies define new genetic mechanisms of IgA vasculitis."],"pmcid":["PMC11482997"],"funding_grant_id":["UL1 TR002384","R01 DK082753","R01 DK105124","R35 CA197745","K01 DK137031","R01 DK078244","RC2 DK116690","T32 GM007367","R01 AI149431","F30 CA257765","R56 DK078244"],"pubmed_authors":["Zanoni F","Rizk D","Lugani F","Vasylyeva TL","Badenski A","Zhang H","Griffin A","Samsonov D","Jankauskiene A","Lundberg S","SiniewiczLuzenczyk K","Gonzalez-Gay MA","Martin J","Kiryluk K","Biancone L","Smoyer WE","Machura E","Mahan JD","Berthelot L","Bomback AS","Kottgen A","Hastings MC","Vogt B","Miklaszewska M","Pillebout E","Florczak M","Nelson R","Al-Akash S","Iorember F","Kaminska D","Sikora P","Weng P","Davis TK","Hryszko T","Selewski D","Zaniew M","Califano A","Novak J","Lin F","Foroncewicz B","Kallash M","Gradzinska A","Scolari F","Silva C","Liu L","Monteiro RC","Green TJ","Esposito V","Materna-Kiryluk A","Ranch D","Matar RB","Mizerska-Wasiak M","Tesar V","Quiroga A","Chishti A","Marasa M","Sreedharan R","Krakowczyk H","Zhang JY","Appel GB","Claes D","Flynn JT","Pawlaczyk K","Mani LY","Caliskan Y","Akchurin O","Vlahos LJ","Esposito C","Gharavi AG","Berrouet C","Mason S","De Jager PL","Fujita M","Julian BA","Rheault MN","Izzi C","Zhou XJ","Olszewska M","Paczek L","Kwella N","Monteiro-Martins S","Hidalgo G","Wenderfer S","Wyatt RJ","Szczepanska M","Xiao N","Amoroso A","Bono L","Mucha K","Drozdz D","Zhu L","Zaza G","Bodria M"],"additional_accession":[]},"is_claimable":false,"name":"Genome-wide studies define new genetic mechanisms of IgA vasculitis.","description":"IgA vasculitis (IgAV) is a pediatric disease with skin and systemic manifestations. Here, we conducted genome, transcriptome, and proteome-wide association studies in 2,170 IgAV cases and 5,928 controls, generated IgAV-specific maps of gene expression and splicing from blood of 255 pediatric cases, and reconstructed myeloid-specific regulatory networks to define disease master regulators modulated by the newly identified disease driver genes. We observed significant association at the <i>HLA</i>-<i>DRB1</i> (OR=1.55, P=1.1×10<sup>-25</sup>) and fine-mapped specific amino-acid risk substitutions in DRβ1. We discovered two novel non-HLA loci: <i>FCAR</i> (OR=1.51, P=1.0×10<sup>-20</sup>) encoding a myeloid IgA receptor FcαR, and <i>INPP5D</i> (OR=1.34, P=2.2×10<sup>-9</sup>) encoding a known","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-05-28T03:12:45.43Z","creation":"2025-04-06T22:43:14.76Z"},"accession":"S-EPMC11482997","cross_references":{"pubmed":["39417133"],"doi":["10.1101/2024.10.10.24315041"]}}