The genetics of NOD-like receptors in Crohn's disease.
The first Crohn's disease (CD) susceptibility gene identified was CARD15, which is a member of the emerging NOD-like receptor (NLR) family. These function as intracellular cystosolic pattern recognition receptors (PRRs) and play a central role in the innate immune response. We studied other mem...
| Main Authors: | , , , , , , , , , |
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| פורמט: | Journal article |
| שפה: | English |
| יצא לאור: |
2010
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| _version_ | 1826273881772523520 |
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| author | Cummings, JR Cooney, R Clarke, G Beckly, J Geremia, A Pathan, S Hancock, L Guo, C Cardon, L Jewell, D |
| author_facet | Cummings, JR Cooney, R Clarke, G Beckly, J Geremia, A Pathan, S Hancock, L Guo, C Cardon, L Jewell, D |
| author_sort | Cummings, JR |
| collection | OXFORD |
| description | The first Crohn's disease (CD) susceptibility gene identified was CARD15, which is a member of the emerging NOD-like receptor (NLR) family. These function as intracellular cystosolic pattern recognition receptors (PRRs) and play a central role in the innate immune response. We studied other members of the NLR family using a gene-wide haplotype tagging approach in a well-characterised collection of 547 CD patients and 465 controls. Four single nucleotide polymorphisms (SNPs) in NLRP3 had P values < 0.05 and are in high linkage disequilibrium (LD) with each other (r(2) > 0.90 for all four SNPs). rs4925648 and rs10925019 were the most strongly associated with CD susceptibility (P = 0.001, odds ratio (OR) 1.62, 95% CI 1.2-2.18; and P = 6.5 x 10(-4), OR 1.65, 95% CI 1.23-2.19, respectively). rs1363758 located in NLRP11 was associated with CD susceptibility [P = 0.002 (1.64, 1.19-2.25)], which was weakly confirmed in an independent case-cohort collection on joint analysis [P = 0.05, (1.28, 1-1.64)]. On sub-phenotype analysis, an interesting association between NLRP1 and skin extra-intestinal manifestations and colonic, inflammatory CD was identified. None of these results was replicated in the Wellcome Trust Case Control Consortium study and therefore need replication in a further large cohort. |
| first_indexed | 2024-03-06T22:34:58Z |
| format | Journal article |
| id | oxford-uuid:5993beec-bd8b-4311-bfa1-b1a3f541b21b |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T22:34:58Z |
| publishDate | 2010 |
| record_format | dspace |
| spelling | oxford-uuid:5993beec-bd8b-4311-bfa1-b1a3f541b21b2022-03-26T17:10:30ZThe genetics of NOD-like receptors in Crohn's disease.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:5993beec-bd8b-4311-bfa1-b1a3f541b21bEnglishSymplectic Elements at Oxford2010Cummings, JRCooney, RClarke, GBeckly, JGeremia, APathan, SHancock, LGuo, CCardon, LJewell, DThe first Crohn's disease (CD) susceptibility gene identified was CARD15, which is a member of the emerging NOD-like receptor (NLR) family. These function as intracellular cystosolic pattern recognition receptors (PRRs) and play a central role in the innate immune response. We studied other members of the NLR family using a gene-wide haplotype tagging approach in a well-characterised collection of 547 CD patients and 465 controls. Four single nucleotide polymorphisms (SNPs) in NLRP3 had P values < 0.05 and are in high linkage disequilibrium (LD) with each other (r(2) > 0.90 for all four SNPs). rs4925648 and rs10925019 were the most strongly associated with CD susceptibility (P = 0.001, odds ratio (OR) 1.62, 95% CI 1.2-2.18; and P = 6.5 x 10(-4), OR 1.65, 95% CI 1.23-2.19, respectively). rs1363758 located in NLRP11 was associated with CD susceptibility [P = 0.002 (1.64, 1.19-2.25)], which was weakly confirmed in an independent case-cohort collection on joint analysis [P = 0.05, (1.28, 1-1.64)]. On sub-phenotype analysis, an interesting association between NLRP1 and skin extra-intestinal manifestations and colonic, inflammatory CD was identified. None of these results was replicated in the Wellcome Trust Case Control Consortium study and therefore need replication in a further large cohort. |
| spellingShingle | Cummings, JR Cooney, R Clarke, G Beckly, J Geremia, A Pathan, S Hancock, L Guo, C Cardon, L Jewell, D The genetics of NOD-like receptors in Crohn's disease. |
| title | The genetics of NOD-like receptors in Crohn's disease. |
| title_full | The genetics of NOD-like receptors in Crohn's disease. |
| title_fullStr | The genetics of NOD-like receptors in Crohn's disease. |
| title_full_unstemmed | The genetics of NOD-like receptors in Crohn's disease. |
| title_short | The genetics of NOD-like receptors in Crohn's disease. |
| title_sort | genetics of nod like receptors in crohn s disease |
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