DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Pediatric autoimmune diseases. The EFO term autoimmune thyroid disease, type I diabetes mellitus, Common variable immunodeficiency, chronic childhood arthritis, ankylosing spondylitis, psoriasis, celiac disease, ulcerative colitis, Crohn's disease, autoimmune disease, systemic lupus erythematosus was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: autoimmune thyroid disease, type I diabetes mellitus, Common variable immunodeficiency, chronic childhood arthritis, ankylosing spondylitis, psoriasis, celiac disease, ulcerative colitis, Crohn's disease, autoimmune disease, systemic lupus erythematosus

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

YR Li, J Li, SD Zhao, JP Bradfield, FD Mentch, SM Maggadottir, C Hou, DJ Abrams, D Chang, F Gao, Y Guo, Z Wei, JJ Connolly, CJ Cardinale, M Bakay, JT Glessner, D Li, C Kao, KA Thomas, H Qiu, RM Chiavacci, CE Kim, F Wang, J Snyder, MD Richie, B Flatø, Ø Førre, LA Denson, SD Thompson, ML Becker, SL Guthery, A Latiano, E Perez, E Resnick, RK Russell, DC Wilson, MS Silverberg, V Annese, BA Lie, M Punaro, MC Dubinsky, DS Monos, C Strisciuglio, A Staiano, E Miele, S Kugathasan, JA Ellis, JE Munro, KE Sullivan, CA Wise, H Chapel, C Cunningham-Rundles, SF Grant, JS Orange, PM Sleiman, EM Behrens, AM Griffiths, J Satsangi, TH Finkel, A Keinan, ET Prak, C Polychronakos, RN Baldassano, H Li, BJ Keating, H Hakonarson

TITLE:

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

JOURNAL:

Nature medicine Sep 2015, Vol 21, pp. 1018-27

ABSTRACT:

Genome-wide association studies (GWASs) have identified hundreds of susceptibility genes, including shared associations across clinically distinct autoimmune diseases. We performed an inverse χ(2) meta-analysis across ten pediatric-age-of-onset autoimmune diseases (pAIDs) in a case-control study including more than 6,035 cases and 10,718 shared population-based controls. We identified 27 genome-wide significant loci associated with one or more pAIDs, mapping to in silico-replicated autoimmune-associated genes (including IL2RA) and new candidate loci with established immunoregulatory functions such as ADGRL2, TENM3, ANKRD30A, ADCY7 and CD40LG. The pAID-associated single-nucleotide polymorphisms (SNPs) were functionally enriched for deoxyribonuclease (DNase)-hypersensitivity sites, expression quantitative trait loci (eQTLs), microRNA (miRNA)-binding sites and coding variants. We also identified biologically correlated, pAID-associated candidate gene sets on the basis of immune cell expression profiling and found evidence of genetic sharing. Network and protein-interaction analyses demonstrated converging roles for the signaling pathways of type 1, 2 and 17 helper T cells (TH1, TH2 and TH17), JAK-STAT, interferon and interleukin in multiple autoimmune diseases. PUBMED: 26301688
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