TY - JOUR
T1 - Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort
AU - Hellquist, Anna
AU - Sandling, Johanna K.
AU - Zucchelli, Marco
AU - Koskenmies, Sari
AU - Julkunen, Heikki
AU - D'Amato, Mauro
AU - Garnier, Sophie
AU - Syvänen, Ann Christine
AU - Kere, Juha
PY - 2010/5/1
Y1 - 2010/5/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/77951536271
U2 - 10.1136/ard.2009.112284
DO - 10.1136/ard.2009.112284
M3 - Article
C2 - 19717398
AN - SCOPUS:77951536271
SN - 0003-4967
VL - 69
SP - 883
EP - 886
JO - Annals of the Rheumatic Diseases
JF - Annals of the Rheumatic Diseases
IS - 5
ER -