Rheumatology Medical News about JIA;identification of susceptibility locus

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Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis
Arthritis & Rheumatism, 01/09/09

Hinks A et al. – Study reports a SNP-based genome-wide association approach to the investigation of juvenile idiopathic arthritis (JIA). VTCN1 gene defined as an additional susceptibility locus for JIA was identified and implicates a novel pathway in the pathogenesis of this chronic disease of childhood.

Methods

Study to perform a systematic search of the genome to identify novel susceptibility loci for JIA
Affymetrix GeneChip 100K arrays performed in 279 cases and 184 controls
SNPs showing differences between cases and controls were then genotyped in a validation sample of cases (n=321) and controls
This was combined with control data from the 1958 UK birth cohort (n=2,024)
In one region in which association was confirmed, fine-mapping was performed

Results

Of the 112 associated SNPs, in the discovery cohort, 6 SNPs were associated with JIA in the independent validation cohort
Most strongly associated SNP mapped to the HLA region
Second strongest association was with a SNP within the VTCN1 gene
Fine-mapping of that gene was performed, and 10 SNPs were found to be associated with JIA

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