03275nab a2200589 i 4500 publ29520 20240212083138.0 240212s2013 hu o 000 eng d 0964-6906 10.1093/hmg/ddt248 doi 31136274 mtmt SZTE Publicatio Repozitórium hun eng Martin Jose-Ezequiel A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci [elektronikus dokumentum] / Martin Jose-Ezequiel 2013 4021-4029 HUMAN MOLECULAR GENETICS 22 No. 19 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. Klinikai orvostan Assassi Shervin aut Diaz-Gallo Lina-Marcela aut Broen Jasper C aut Simeon Carmen P aut Castellvi Ivan aut Vicente-Rabaneda Esther aut Fonollosa Vicente aut Ortego-Centeno Norberto aut González-Gay Miguel A aut Espinosa Gerard aut Carreira Patricia aut Kollaborációs szervezet: Spanish Scleroderma Group aut Kollaborációs szervezet: SLEGEN consortium aut Kollaborációs szervezet: U.S. Scleroderma GWAS group aut Kollaborációs szervezet: BIOLUPUS aut Camps Mayte aut Sabio Jose M aut D'alfonso Sandra aut Vonk Madelon C aut Voskuyl Alexandre E aut Schuerwegh Annemie J aut Kreuter Alexander aut Witte Torsten aut Riemekasten Gabriella aut Hunzelmann Nicolas aut Airo Paolo aut Beretta Lorenzo aut Scorza Raffaella aut Lunardi Claudio aut Endreffy Emőke aut Kovács László aut http://publicatio.bibl.u-szeged.hu/29520/1/Martin.pdf Dokumentum-elérés