Objectives To investigate whether 10 single nucleotide polymorphisms (SNPs) and haplotypes in the STAT4 gene, previously associated with systemic lupus erythematosus (SLE) in a Swedish case–control cohort, are also associated with SLE risk in a Finnish SLE family cohort.
Method Genotyping was performed in 192 Finnish families, with 237 affected subjects and their healthy relatives, using the SNPstream genotyping system.
Results Transmission disequilibrium test analysis provided the strongest signal of association for two linked SNPs: rs7582694 (p=0.002, OR=2.57) and rs10181656 (p=0.001, OR=2.53). Haplotype association analysis using a sliding window approach was also performed and showed that the strongest association signal originates from SNPs in intron 3 of STAT4.
Conclusion The main association signal for STAT4 with SLE previously reported in Caucasians is the same in the Finnish population. This is the first study that confirms the association of STAT4 with SLE in a family cohort.
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AH and JKS contributed equally.
Funding The study was supported by grants from the Swedish Research Council for Medicine; the Alliance for Lupus Research, USA; Academy of Finland and Sigrid Jusélius Foundation. Genotyping was performed using equipment at the SNP Technology Platform in Uppsala (http://www.genotyping.se, accessed 19 February 2010), supported by the Knut and Alice Wallenberg Foundation. The funding sources had no involvement in the study design, collection, analysis and interpretation of data; in the writing of the report; and in the decision to submit the paper for publication.
Competing interests None.
Patient consent Obtained.
Ethics approval Approved by a local ethical committee (Karolinska Institutet, Stockholm, Sweden).
Provenance and peer review Not commissioned; externally peer reviewed.
Current address (SG) INSERM U937 “Génétique Epidémiologique et Moléculaire des Pathologies Cardiovasculaires”, Université Paris VI, Paris, France
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