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 lupus erythematosus and Systemic sclerosis. The EFO term systemic scleroderma, 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: systemic scleroderma, systemic lupus erythematosus

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

JE Martin, S Assassi, LM Diaz-Gallo, JC Broen, CP Simeon, I Castellvi, E Vicente-Rabaneda, V Fonollosa, N Ortego-Centeno, MA González-Gay, G Espinosa, P Carreira, M Camps, JM Sabio, S D'alfonso, MC Vonk, AE Voskuyl, AJ Schuerwegh, A Kreuter, T Witte, G Riemekasten, N Hunzelmann, P Airo, L Beretta, R Scorza, C Lunardi, J Van Laar, MM Chee, J Worthington, A Herrick, C Denton, C Fonseca, FK Tan, F Arnett, X Zhou, JD Reveille, O Gorlova, BP Koeleman, TR Radstake, T Vyse, MD Mayes, ME Alarcón-Riquelme, J Martin

TITLE:

A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.

JOURNAL:

Human molecular genetics Oct 2013, Vol 22, pp. 4021-9

ABSTRACT:

Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are two archetypal systemic autoimmune diseases which have been shown to share multiple genetic susceptibility loci. In order to gain insight into the genetic basis of these diseases, we performed a pan-meta-analysis of two genome-wide association studies (GWASs) together with a replication stage including additional SSc and SLE cohorts. This increased the sample size to a total of 21,109 (6835 cases and 14,274 controls). We selected for replication 19 SNPs from the GWAS data. We were able to validate KIAA0319L (P = 3.31 × 10(-11), OR = 1.49) as novel susceptibility loci for SSc and SLE. Furthermore, we also determined that the previously described SLE susceptibility loci PXK (P = 3.27 × 10(-11), OR = 1.20) and JAZF1 (P = 1.11 × 10(-8), OR = 1.13) are shared with SSc. Supporting these new discoveries, we observed that KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls. With these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity. PUBMED: 23740937
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