期刊
INFLAMMATORY BOWEL DISEASES
卷 17, 期 6, 页码 1387-1391出版社
OXFORD UNIV PRESS INC
DOI: 10.1002/ibd.21499
关键词
NLRP3; Crohn's disease; inflammasome; genetics
资金
- Wellcome Trust Case Control Consortium
- Department of Health via the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre
- University of Cambridge School of Clinical Medicine
- MRC [G0800383] Funding Source: UKRI
- Medical Research Council [G0800383] Funding Source: researchfish
Background: NLRP3 (formerly known as CIAS1 or NALP3) encodes a key component of the inflammasome and is a strong candidate gene for Crohn's disease (CD) susceptibility. A recent study reported significant and internally replicated association between CD and six single nucleotide polymorphisms (SNPs) in a regulatory region 5.3 kb downstream of NLRP3. Independent replication is required to verify these findings. Methods: In all, 1298 CD cases and 1244 healthy controls were genotyped for the six SNPs using Taqman. Single locus, haplotype, and subphenotype analyses were conducted using logistic regression-based methods and PLINK, respectively. Results: No significant associations were found, either on single locus, subphenotype, or haplotype analysis. Conclusions: Given our high (>90%) power to replicate findings from the index study, our data suggest either a much smaller effect size for the association between NLRP3 and CD susceptibility than previously reported or the possibility of a false-positive result in the index study. Further studies in other populations are required to determine what role, if any, NLRP3 variants play in CD susceptibility.
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