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Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort
  1. Anna Hellquist1,
  2. Johanna K Sandling2,
  3. Marco Zucchelli1,
  4. Sari Koskenmies3,4,
  5. Heikki Julkunen5,
  6. Mauro D'Amato1,
  7. Sophie Garnier2,
  8. Ann-Christine Syvänen2,
  9. Juha Kere1,3
  1. 1Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
  2. 2Molecular Medicine, Department of Medical Sciences, Uppsala University, Uppsala, Sweden
  3. 3Department of Medical Genetics, University of Helsinki, and Folkhälsan Institute of Genetics, Helsinki, Finland
  4. 4Department of Dermatology, Helsinki University Central Hospital, and University of Helsinki, Helsinki, Finland
  5. 5Department of Rheumatology, Helsinki University Central Hospital, Peijas Hospital, Vantaa, Finland
  1. Correspondence to Professor Juha Kere, Department of Biosciences and Nutrition, Karolinska Institutet, Hälsovägen 7-9, S-14157 Huddinge, Sweden; juha.kere{at}


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 (, 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