Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Hinks, A. et al.

Anne Hinks, Anne Barton, Neil Shephard, Steve Eyre, John Bowes, Michele Cargill, Eric Wang, Xiayi Ke, Giulia C. Kennedy, Sally John, Jane Worthington, Wendy Thomson,

Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis.

OBJECTIVE: Juvenile idiopathic arthritis (JIA) is a chronic rheumatic disease of childhood. Two well-established genetic factors known to contribute to JIA susceptibility, HLA and PTPN22, account for less than half of the genetic susceptibility to disease; therefore, additional genetic factors have yet to be identified. The purpose of this study was to perform a systematic search of the genome to identify novel susceptibility loci for JIA. METHODS: A genome-wide association study using Affymetrix GeneChip 100K arrays was performed in a discovery cohort (279 cases and 184 controls). Single-nucleotide polymorphisms (SNPs) showing the most significant differences between cases and controls were then genotyped in a validation sample of cases (n = 321) and controls, 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 (654 cases and 1,847 controls). RESULTS: Of the 112 SNPs that were significantly associated with JIA in the discovery cohort, 6 SNPs were associated with JIA in the independent validation cohort. The most strongly associated SNP mapped to the HLA region, while the 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. CONCLUSION: This study is the first to successfully apply a SNP-based genome-wide association approach to the investigation of JIA. The replicated association with markers in the VTCN1 gene defined an additional susceptibility locus for JIA and implicates a novel pathway in the pathogenesis of this chronic disease of childhood.[1]

References

Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis. Hinks, A., Barton, A., Shephard, N., Eyre, S., Bowes, J., Cargill, M., Wang, E., Ke, X., Kennedy, G.C., John, S., Worthington, J., Thomson, W. Arthritis Rheum. (2009) [Pubmed]

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