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

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Authors
Martin, Jose-Ezequiel
Assassi, Shervin
Diaz-Gallo, Lina-Marcela
Broen, Jasper C
Simeon, Carmen P
Castellvi, Ivan
Vicente-Rabaneda, Esther
Fonollosa, Vicente
Ortego-Centeno, Norberto
González-Gay, Miguel A
Espinosa, Gerard
Carreira, Patricia
Camps, Mayte
Sabio, Jose M
D'alfonso, Sandra
Vonk, Madelon C
Voskuyl, Alexandre E
Schuerwegh, Annemie J
Kreuter, Alexander
Witte, Torsten
Riemekasten, Gabriella
Hunzelmann, Nicolas
Airo, Paolo
Beretta, Lorenzo
Scorza, Raffaella
Lunardi, Claudio
Van Laar, Jacob
Chee, Meng May
Worthington, Jane
Herrick, Arianne
Denton, Christopher
Fonseca, Carmen
Tan, Filemon K
Arnett, Frank
Zhou, Xiaodong
Reveille, John D
Gorlova, Olga
Koeleman, Bobby P C
Radstake, Timothy R D J
Vyse, Timothy
Mayes, Maureen D
Alarcón-Riquelme, Marta E
Martin, Javier
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Issue Date
2013-10-01

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Citation
Hum. Mol. Genet. 2013, 22 (19):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.
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Additional Links
http://dx.doi.org/10.1093/hmg/ddt248
http://hmg.oxfordjournals.org/content/22/19/4021.full.pdf+html
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Archived with thanks to Human molecular genetics
ae974a485f413a2113503eed53cd6c53
10.1093/hmg/ddt248
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