title: Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Biosciences and Nutrition, Karolinska Institutet, Hälsovägen 7-9, S-14157 Huddinge, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Hellquist
authors.forename: Johanna K
authors.initials: JK
authors.lastname: Sandling
authors.forename: Marco
authors.initials: M
authors.lastname: Zucchelli
authors.forename: Sari
authors.initials: S
authors.lastname: Koskenmies
authors.forename: Heikki
authors.initials: H
authors.lastname: Julkunen
authors.forename: Mauro
authors.initials: M
authors.lastname: D'Amato
authors.forename: Sophie
authors.initials: S
authors.lastname: Garnier
authors.forename: Ann-Christine
authors.initials: AC
authors.lastname: Syvänen
authors.forename: Juha
authors.initials: J
authors.lastname: Kere
mesh_terms: D015331:Cohort Studies; D005387:Finland; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D050797:STAT4 Transcription Factor / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human