Martin, Jose-Ezequiel, Assassi, Shervin, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Simeon, Carmen P., Castellvi, Ivan ORCID: 0000-0002-5410-5807, Vicente-Rabaneda, Esther, Fonollosa, Vicente, Ortego-Centeno, Norberto, Gonzalez-Gay, Miguel A. ORCID: 0000-0002-7924-7406, Espinosa, Gerard ORCID: 0000-0003-1336-0163, 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 ORCID: 0000-0002-6529-6258, Scorza, Raffaella, Lunardi, Claudio, Van Laar, Jacob, Chee, Meng May, Worthington, Jane ORCID: 0000-0003-0544-042X, 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., Alarcon-Riquelme, Marta E. ORCID: 0000-0002-7632-4154 and Martin, Javier ORCID: 0000-0002-2202-0622 (2013). A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. Hum. Mol. Genet., 22 (19). S. 4021 - 4030. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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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 x 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 x 10(-11), OR = 1.20) and JAZF1 (P = 1.11 x 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Martin, Jose-EzequielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Assassi, ShervinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diaz-Gallo, Lina-MarcelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Broen, Jasper C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simeon, Carmen P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Castellvi, IvanUNSPECIFIEDorcid.org/0000-0002-5410-5807UNSPECIFIED
Vicente-Rabaneda, EstherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fonollosa, VicenteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ortego-Centeno, NorbertoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Gay, Miguel A.UNSPECIFIEDorcid.org/0000-0002-7924-7406UNSPECIFIED
Espinosa, GerardUNSPECIFIEDorcid.org/0000-0003-1336-0163UNSPECIFIED
Carreira, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Camps, MayteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sabio, Jose M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
D'alfonso, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vonk, Madelon C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Voskuyl, Alexandre E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schuerwegh, Annemie J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreuter, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witte, TorstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riemekasten, GabriellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunzelmann, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Airo, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beretta, LorenzoUNSPECIFIEDorcid.org/0000-0002-6529-6258UNSPECIFIED
Scorza, RaffaellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lunardi, ClaudioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Van Laar, JacobUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chee, Meng MayUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Worthington, JaneUNSPECIFIEDorcid.org/0000-0003-0544-042XUNSPECIFIED
Herrick, ArianneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Denton, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fonseca, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tan, Filemon K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnett, FrankUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhou, XiaodongUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reveille, John D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gorlova, OlgaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koeleman, Bobby P. C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radstake, Timothy R. D. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vyse, TimothyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mayes, Maureen D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alarcon-Riquelme, Marta E.UNSPECIFIEDorcid.org/0000-0002-7632-4154UNSPECIFIED
Martin, JavierUNSPECIFIEDorcid.org/0000-0002-2202-0622UNSPECIFIED
URN: urn:nbn:de:hbz:38-475362
DOI: 10.1093/hmg/ddt248
Journal or Publication Title: Hum. Mol. Genet.
Volume: 22
Number: 19
Page Range: S. 4021 - 4030
Date: 2013
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1460-2083
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; ADHESION MOLECULES; CELL-ADHESION; CLASSIFICATION; RISK; PXK; REPLICATION; VARIANTS; CRITERIA; DISEASEMultiple languages
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/47536

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