Published in

Oxford University Press (OUP), Human Molecular Genetics, 19(22), p. 4021-4029

DOI: 10.1093/hmg/ddt248

Links

Tools

Export citation

Search in Google Scholar

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

Journal article published in 2013 by Jose-Ezequiel Martin, Spanish_Scleroderma_Group, Shervin Assassi, Lina-Marcela Diaz-Gallo ORCID, Jasper C. A. Broen, Carmen P. Simeon, Esther Vicente-Rabaneda, Ivan Castellvi ORCID, Vicente Fonollosa, Norberto Ortego-Centeno, Miguel A. González-Gay, Gerard Espinosa, Patricia Carreira, Assassi S Diaz-Gallo LM Broen JC Simeon CP Castellvi I Vicente-Rabaneda E Fonollosa V Ortego-Centeno N González-Gay MA Espinosa G Carreira P. Martin Je, Madelon C. Vonk and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Green circle
Postprint: archiving allowed
Red circle
Published version: archiving forbidden
Data provided by SHERPA/RoMEO

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.