| Literature DB >> 23740937 |
Jose-Ezequiel Martin1, Shervin Assassi, Lina-Marcela Diaz-Gallo, Jasper C Broen, Carmen P Simeon, Ivan Castellvi, Esther Vicente-Rabaneda, Vicente Fonollosa, Norberto Ortego-Centeno, Miguel A González-Gay, Gerard Espinosa, Patricia Carreira, Mayte Camps, Jose M Sabio, Sandra D'alfonso, Madelon C Vonk, Alexandre E Voskuyl, Annemie J Schuerwegh, Alexander Kreuter, Torsten Witte, Gabriella Riemekasten, Nicolas Hunzelmann, Paolo Airo, Lorenzo Beretta, Raffaella Scorza, Claudio Lunardi, Jacob Van Laar, Meng May Chee, Jane Worthington, Arianne Herrick, Christopher Denton, Carmen Fonseca, Filemon K Tan, Frank Arnett, Xiaodong Zhou, John D Reveille, Olga Gorlova, Bobby P C Koeleman, Timothy R D J Radstake, Timothy Vyse, Maureen D Mayes, Marta E Alarcón-Riquelme, Javier Martin.
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.Entities:
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Year: 2013 PMID： 23740937 PMCID： PMC3766185 DOI： 10.1093/hmg/ddt248
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150