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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Hinks, Anne Barton, Anne Shephard, Neil Eyre, Steve Bowes, John Cargill, Michele Wang, Eric Ke, Xiayi Kennedy, Giulia C. John, Sally Worthington, Jane Thomson, Wendy |
| Description | Country affiliation: United kingdom Author Affiliation: Hinks A ( University of Manchester, Manchester, UK. Anne.Hinks@manchester.ac.uk) |
| Abstract | 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. |
| File Format | HTM / HTML |
| ISSN | 00043591 |
| e-ISSN | 15290131 |
| DOI | 10.1002/art.24179 |
| Journal | Arthritis & Rheumatism |
| Issue Number | 1 |
| Volume Number | 60 |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2009-01-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Research Support, Non-u.s. Gov't Oligonucleotide Array Sequence Analysis Genomics V-set Domain-containing T-cell Activation Inhibitor 1 Antigens, Cd80 Genotype Chromosome Mapping Reproducibility Of Results Arthritis, Juvenile Adolescent Validation Studies Genetics Polymorphism, Single Nucleotide Genome-wide Association Study Discipline Rheumatic Diseases Hla Antigens Suppression, Genetic |
| Content Type | Text |
| Resource Type | Article |
| Subject | Immunology and Allergy Immunology Pharmacology (medical) Rheumatology |
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