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 Systemic sclerosis. The EFO term systemic scleroderma 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: systemic scleroderma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

TR Radstake, O Gorlova, B Rueda, JE Martin, BZ Alizadeh, R Palomino-Morales, MJ Coenen, MC Vonk, AE Voskuyl, AJ Schuerwegh, JC Broen, PL van Riel, R van 't Slot, A Italiaander, RA Ophoff, G Riemekasten, N Hunzelmann, CP Simeon, N Ortego-Centeno, MA González-Gay, MF González-Escribano, P Airo, J van Laar, A Herrick, J Worthington, R Hesselstrand, V Smith, F de Keyser, F Houssiau, MM Chee, R Madhok, P Shiels, R Westhovens, A Kreuter, H Kiener, E de Baere, T Witte, L Padykov, L Klareskog, L Beretta, R Scorza, BA Lie, AM Hoffmann-Vold, P Carreira, J Varga, M Hinchcliff, PK Gregersen, AT Lee, J Ying, Y Han, SF Weng, CI Amos, FM Wigley, L Hummers, JL Nelson, SK Agarwal, S Assassi, P Gourh, FK Tan, BP Koeleman, FC Arnett, J Martin, MD Mayes

TITLE:

Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

JOURNAL:

Nature genetics May 2010, Vol 42, pp. 426-9

ABSTRACT:

Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. To identify new SSc susceptibility loci, we conducted the first genome-wide association study in a population of European ancestry including a total of 2,296 individuals with SSc and 5,171 controls. Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22-23, rs2056626, P = 2.09 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.86 x 10(-13)) and STAT4 (P = 3.37 x 10(-9)) gene regions as SSc genetic risk factors. PUBMED: 20383147
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