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Variation in STAT4 is associated with systemic lupus erythematosus (SLE) in a Finnish family cohort
  1. Anna Hellquist
  1. Karolinska Institutet, Sweden
    1. Johanna K Sandling
    1. Uppsala University, Sweden
      1. Marco Zucchelli
      1. Karolinska Institutet, Sweden
        1. Sari Koskenmies
        1. University of Helsinki, and Folkhälsan Institute of Genetics, Finland
          1. Heikki Julkunen
          1. Helsinki University Central Hospital and Peijas Hospital, Finland
            1. Mauro D’Amato
            1. Karolinska Institutet, Sweden
              1. Sophie Garnier
              1. Université Paris VI, France
                1. Ann-Christine Syvänen
                1. Uppsala University, Sweden
                  1. Juha Kere (juha.kere{at}
                  1. Karolinska Institutet, Sweden


                    Objectives: To investigate if 10 single nucleotide polymorphisms (SNPs) and haplotypes in the STAT4 gene, previously associated with SLE in a Swedish case-control cohort, also are associated with SLE risk in a Finnish SLE family cohort.

                    Method: Genotyping was performed in 192 Finnish families, with 237 affected individuals and their healthy relatives, using the SNPstream genotyping system.

                    Results: TDT analysis provided the strongest signal of association for two linked SNPs; rs7582694 (P-value = 0.002, OR = 2.57) and rs10181656 (P-value = 0.001, OR = 2.53). We further performed haplotype association analysis using a sliding window approach which showed that the strongest association signal originates from SNPs in intron 3 of STAT4.

                    Conclusion: Our results provide evidence that 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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