作者
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
发表日期
2009/11/1
期刊
Annals of the Rheumatic Diseases
卷号
68
期号
11
页码范围
1746-1753
出版商
BMJ Publishing Group Ltd
简介
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 …
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AK Abelson, AM Delgado-Vega, SV Kozyrev… - Annals of the Rheumatic Diseases, 2009