The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-κB signalling
Open accessAbstract
Objective: Our previous coeliac disease genome-wide association study (GWAS) implicated risk variants in the human leucocyte antigen (HLA) region and eight novel risk regions. To identify more coeliac disease loci, we selected 458 single nucleotide polymorphisms (SNPs) that showed more modest association in the GWAS for genotyping and analysis in four independent cohorts. Design: 458 SNPs were assayed in 1682 cases and 3258 controls from three populations (UK, Irish and Dutch). We combined the results with the original GWAS cohort (767 UK cases and 1422 controls); six SNPs showed association with p<1×10 −04 and were then genotyped in an independent Italian coeliac cohort (538 cases and 593 controls). Results: We identified two novel coeliac disease risk regions: 6q23.3 ( OLIG3-TNFAIP3 ) and 2p16.1 ( REL ), both of which reached genome-wide significance in the combined analysis of all 2987 cases and 5273 controls (rs2327832 p = 1.3×10 −08 , and rs842647 p = 5.2×10 −07 ). We investigated the expression of these genes in the RNA isolated from biopsies and from whole blood RNA. We did not observe any changes in gene expression, nor in the correlation of genotype with gene expression. Conclusions: Both TNFAIP3 (A20, at the protein level) and REL are key mediators in the nuclear factor kappa B (NF-κB) inflammatory signalling pathway. For the first time, a role for primary heritable variation in this important biological pathway predisposing to coeliac disease has been identified. Currently, the HLA risk factors and the 10 established non-HLA risk factors explain ∼40% of the heritability of coeliac disease.
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Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Integrating cell-signalling pathways with NF-κB and IKK function
Perkins, N. D. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2083 · Cited by 2,350
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
Finland, G. O. T. 1. D. I., Todd, J. A., the Wellcome Trust Case Control Consortium, Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., et al. (2007) · Nature Genetics · doi:10.1038/ng2068 · Cited by 1,456
Failure to Regulate TNF-Induced NF-κB and Cell Death Responses in A20-Deficient Mice
Lee, E. G., Boone, D. L., Chai, S., Libby, S. L., Chien, M., Lodolce, J. P., & Ma, A. (2000) · Science · doi:10.1126/science.289.5488.2350 · Cited by 1,409
Detecting shared pathogenesis from the shared genetics of immune-related diseases
Zhernakova, A., van Diemen, C. C., & Wijmenga, C. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2489 · Cited by 551
Self-citation
Cited by
Spanish Consortium on the Genetics of Coeliac Disease (CEGEC), Trynka, G., PreventCD Study Group, Wellcome Trust Case Control Consortium (WTCCC), Hunt, K. A., Bockett, N. A., Romanos, J., Mistry, V., Szperl, A., Bakker, S. F., et al. (2011) · Nature Genetics · doi:10.1038/ng.998 · Cited by 832
Self-citationGenome-wide association identifies multiple ulcerative colitis susceptibility loci
The NIDDK IBD Genetics Consortium, McGovern, D. P. B., Gardet, A., Törkvist, L., Goyette, P., Essers, J., Taylor, K. D., Neale, B. M., Ong, R. T. H., Lagacé, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.549 · Cited by 654
Self-citationA20: linking a complex regulator of ubiquitylation to immunity and human disease
Ma, A., & Malynn, B. A. (2012) · Nature Reviews Immunology · doi:10.1038/nri3313 · Cited by 548
Zhernakova, A., Stahl, E. A., Trynka, G., Raychaudhuri, S., Festen, E. A., Franke, L., Westra, H.-J., Fehrmann, R. S. N., Kurreeman, F. A. S., Thomson, B., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002004 · Cited by 358
Self-citationGregersen, P. K., Amos, C. I., Lee, A. T., Lu, Y., Remmers, E. F., Kastner, D. L., Seldin, M. F., Criswell, L. A., Plenge, R. M., Holers, V. M., et al. (2009) · Nature Genetics · doi:10.1038/ng.395 · Cited by 332
Metadata
- Authors
- Trynka, G., Zhernakova, A., Romanos, J., Franke, L., Hunt, K. A., Turner, G., Bruinenberg, M., Heap, G. A., Platteel, M., Ryan, A. W., de Kovel, C., Holmes, G. K. T., Howdle, P. D., Walters, J. R. F., Sanders, D. S., Mulder, C. J. J., Mearin, M. L., Verbeek, W. H. M., Trimble, V, Stevens, F. M., Kelleher, D., Barisani, D., Bardella, M. T., McManus, R., van Heel, D. A., & Wijmenga, C.
- Venue
- Gut
- Publisher
- BMJ
- Published
- 2009-02-24
- Volume
- 58
- Issue
- 8
- Pages
- 1078-1083
- ISSN
- 0017-5749 (ISSN-L)
- 1468-3288
- OpenAlex
- W2143112748
- Cited by
- 196
- References
- 5
- FWCI
- 26.23
- Type
- journal article
- Language
- en
- Open access
- green
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- Trynka, G., Zhernakova, A., Romanos, J., Franke, L., Hunt, K. A., Turner, G., Bruinenberg, M., Heap, G. A., Platteel, M., Ryan, A. W., de Kovel, C., Holmes, G. K. T., Howdle, P. D., Walters, J. R. F., Sanders, D. S., Mulder, C. J. J., Mearin, M. L., Verbeek, W. H. M., Trimble, V, . . . Wijmenga, C. (2009). Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-κB signalling. Gut. https://doi.org/10.1136/gut.2008.169052
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