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

Jose Ezequiel Martin*, 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 WitteGabriella 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

*Corresponding author for this work
69 Citations (Scopus)


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.

Original languageEnglish
JournalHuman Molecular Genetics
Issue number19
Pages (from-to)4021-4029
Number of pages9
Publication statusPublished - 10.2013

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)


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