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Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis
Analysis of the ImmunoChip single nucleotide polymorphism (SNP) array in 2816 individuals, comprising the most common subtypes (oligoarticular and RF negative polyarticular) of juvenile idiopathic arthritis (JIA) and 13056 controls strengthens the evidence for association to three known JIA-risk loc...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673707/ https://www.ncbi.nlm.nih.gov/pubmed/23603761 http://dx.doi.org/10.1038/ng.2614 |
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| author | Hinks, Anne Cobb, Joanna Marion, Miranda C. Prahalad, Sampath Sudman, Marc Bowes, John Martin, Paul Comeau, Mary E. Sajuthi, Satria Andrews, Robert Brown, Milton Chen, Wei-Min Concannon, Patrick Deloukas, Panos Edkins, Sarah Eyre, Stephen Gaffney, Patrick M. Guthery, Stephen L. Guthridge, Joel M. Hunt, Sarah E. James, Judith A. Keddache, Mehdi Moser, Kathy L. Nigrovic, Peter A. Onengut-Gumuscu, Suna Onslow, Mitchell L. Rosé, Carlos D. Rich, Stephen S. Steel, Kathryn J.A. Wakeland, Edward K. Wallace, Carol A. Wedderburn, Lucy R. Woo, Patricia Bohnsack, John F. Haas, Johannes Peter Glass, David N. Langefeld, Carl D. Thomson, Wendy Thompson, Susan D. |
| author_facet | Hinks, Anne Cobb, Joanna Marion, Miranda C. Prahalad, Sampath Sudman, Marc Bowes, John Martin, Paul Comeau, Mary E. Sajuthi, Satria Andrews, Robert Brown, Milton Chen, Wei-Min Concannon, Patrick Deloukas, Panos Edkins, Sarah Eyre, Stephen Gaffney, Patrick M. Guthery, Stephen L. Guthridge, Joel M. Hunt, Sarah E. James, Judith A. Keddache, Mehdi Moser, Kathy L. Nigrovic, Peter A. Onengut-Gumuscu, Suna Onslow, Mitchell L. Rosé, Carlos D. Rich, Stephen S. Steel, Kathryn J.A. Wakeland, Edward K. Wallace, Carol A. Wedderburn, Lucy R. Woo, Patricia Bohnsack, John F. Haas, Johannes Peter Glass, David N. Langefeld, Carl D. Thomson, Wendy Thompson, Susan D. |
| author_sort | Hinks, Anne |
| collection | PubMed |
| description | Analysis of the ImmunoChip single nucleotide polymorphism (SNP) array in 2816 individuals, comprising the most common subtypes (oligoarticular and RF negative polyarticular) of juvenile idiopathic arthritis (JIA) and 13056 controls strengthens the evidence for association to three known JIA-risk loci (HLA, PTPN22 and PTPN2) and has identified fourteen risk loci reaching genome-wide significance (p < 5 × 10(-8)) for the first time. Eleven additional novel regions showed suggestive evidence for association with JIA (p < 1 × 10(-6)). Dense-mapping of loci along with bioinformatic analysis has refined the association to one gene for eight regions, highlighting crucial pathways, including the IL-2 pathway, in JIA disease pathogenesis. The entire ImmunoChip loci, HLA region and the top 27 loci (p < 1 × 10(-6)) explain an estimated 18%, 13% and 6% risk of JIA, respectively. Analysis of the ImmunoChip dataset, the largest cohort of JIA cases investigated to date, provides new insight in understanding the genetic basis for this childhood autoimmune disease. |
| format | Online Article Text |
| id | pubmed-3673707 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2013 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-36737072013-12-01 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis Hinks, Anne Cobb, Joanna Marion, Miranda C. Prahalad, Sampath Sudman, Marc Bowes, John Martin, Paul Comeau, Mary E. Sajuthi, Satria Andrews, Robert Brown, Milton Chen, Wei-Min Concannon, Patrick Deloukas, Panos Edkins, Sarah Eyre, Stephen Gaffney, Patrick M. Guthery, Stephen L. Guthridge, Joel M. Hunt, Sarah E. James, Judith A. Keddache, Mehdi Moser, Kathy L. Nigrovic, Peter A. Onengut-Gumuscu, Suna Onslow, Mitchell L. Rosé, Carlos D. Rich, Stephen S. Steel, Kathryn J.A. Wakeland, Edward K. Wallace, Carol A. Wedderburn, Lucy R. Woo, Patricia Bohnsack, John F. Haas, Johannes Peter Glass, David N. Langefeld, Carl D. Thomson, Wendy Thompson, Susan D. Nat Genet Article Analysis of the ImmunoChip single nucleotide polymorphism (SNP) array in 2816 individuals, comprising the most common subtypes (oligoarticular and RF negative polyarticular) of juvenile idiopathic arthritis (JIA) and 13056 controls strengthens the evidence for association to three known JIA-risk loci (HLA, PTPN22 and PTPN2) and has identified fourteen risk loci reaching genome-wide significance (p < 5 × 10(-8)) for the first time. Eleven additional novel regions showed suggestive evidence for association with JIA (p < 1 × 10(-6)). Dense-mapping of loci along with bioinformatic analysis has refined the association to one gene for eight regions, highlighting crucial pathways, including the IL-2 pathway, in JIA disease pathogenesis. The entire ImmunoChip loci, HLA region and the top 27 loci (p < 1 × 10(-6)) explain an estimated 18%, 13% and 6% risk of JIA, respectively. Analysis of the ImmunoChip dataset, the largest cohort of JIA cases investigated to date, provides new insight in understanding the genetic basis for this childhood autoimmune disease. 2013-04-21 2013-06 /pmc/articles/PMC3673707/ /pubmed/23603761 http://dx.doi.org/10.1038/ng.2614 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Hinks, Anne Cobb, Joanna Marion, Miranda C. Prahalad, Sampath Sudman, Marc Bowes, John Martin, Paul Comeau, Mary E. Sajuthi, Satria Andrews, Robert Brown, Milton Chen, Wei-Min Concannon, Patrick Deloukas, Panos Edkins, Sarah Eyre, Stephen Gaffney, Patrick M. Guthery, Stephen L. Guthridge, Joel M. Hunt, Sarah E. James, Judith A. Keddache, Mehdi Moser, Kathy L. Nigrovic, Peter A. Onengut-Gumuscu, Suna Onslow, Mitchell L. Rosé, Carlos D. Rich, Stephen S. Steel, Kathryn J.A. Wakeland, Edward K. Wallace, Carol A. Wedderburn, Lucy R. Woo, Patricia Bohnsack, John F. Haas, Johannes Peter Glass, David N. Langefeld, Carl D. Thomson, Wendy Thompson, Susan D. Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis |
| title | Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis |
| title_full | Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis |
| title_fullStr | Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis |
| title_full_unstemmed | Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis |
| title_short | Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis |
| title_sort | dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673707/ https://www.ncbi.nlm.nih.gov/pubmed/23603761 http://dx.doi.org/10.1038/ng.2614 |
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