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Abstract: Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn?s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases.
Fuente: Scientific Reports (2020) 10:1862
Editorial: Nature Publishing Group
Año de publicación: 2020
Nº de páginas: 11
Tipo de publicación: Artículo de Revista
DOI: 10.1038/s41598-020-58741-w
ISSN: 2045-2322
Proyecto español: SAF2015-66761-P
Url de la publicación: https://doi.org/10.1038/s41598-020-58741-w
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DAVID GONZÁLEZ-SERNA
EGUZKINE OCHOA
ELENA LÓPEZ-ISAC
ANTONIO JULIÀ
FRAUKE DEGENHARDT
NORBERTO ORTEGO-CENTENO
MIGUEL ANGEL GONZALEZ-GAY MANTECON
TIMOTHY R. D. J. RADSTAKE
ANDRE FRANKE
SARA MARSAL
MAUREEN D. MAYES
JAVIER MARTÍN
ANA MÁRQUEZ
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