Prahalad S et al. – C-318T, A49G, CT60, and haplotypes tagged by CTLA4 SNPs are not associated with juvenile idiopathic arthritis (JIA) or major JIA subtypes. Methods
Study to test 3 functional CTLA4 variants associated with JIA
Families of 531 children with JIA were genotyped for SNPs located in the promoter region (C-318T), exon 1 (A49G), and the 3-untranslated region (CT60) of CTLA4 by PCR
Family Based Association Testing (FBAT) was used for association with JIA
A second independent cohort of >300 children with JIA and >500 controls were genotyped for case-control analyses
Results
No deviations of transmission of any of the CTLA4 variants to children with JIA, or JIA subtypes
No associations between CTLA4 C-318T or A49G SNPs and JIA were found in JIA and controls
No significant associations with CT60 variants were found in >800 JIA cases and >500 controls
Meta-analysis also failed to confirm an association between JIA and CTLA4 variants
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