Autores
Anna-Karin Abelson, Angélica María Delgado-Vega, Sergey V Kozyrev, E Sanchez, R Velazquez-Cruz, N Eriksson, J Wojcik, MVP Linga Reddy, G Lima, S D’Alfonso, S Migliaresi, V Baca, L Orozco, T Witte, N Ortego-Centeno, H Abderrahim, BA Pons-Estel, C Gutierrez, A Suarez, MF Gonzalez-Escribano, J Martin, ME Alarcon-Riquelme
Fecha de publicación
2009/11/1
Revista
Annals of the rheumatic diseases
Volumen
68
Número
11
Páginas
1746-1753
Editor
BMJ Publishing Group Ltd
Descripción
Objectives
To confirm and define the genetic association of STAT4 and systemic lupus erythematosus (SLE), investigate the possibility of correlations with differential splicing and/or expression levels, and genetic interaction with IRF5.
Methods
30 tag SNPs were genotyped in an independent set of Spanish cases and controls. SNPs surviving correction for multiple tests were genotyped in five new sets of cases and controls for replication. STAT4 cDNA was analysed by 5′-RACE PCR and sequencing. Expression levels were measured by quantitative PCR.
Results
In the fine mapping, four SNPs were significant after correction for multiple testing, with rs3821236 and rs3024866 as the strongest signals, followed by the previously associated rs7574865, and by rs1467199. Association was replicated in all cohorts. After conditional regression analyses, two major independent signals, represented by SNPs rs3821236 …
Citas totales
Artículos de Google Académico
AK Abelson, AM Delgado-Vega, SV Kozyrev… - Annals of the rheumatic diseases, 2009