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Newly identified genetic risk variants for celiac disease related to the immune response
Open accessAbstract
Our genome-wide association study of celiac disease previously identified risk variants in the IL2–IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide association study data (767 cases, 1,422 controls), we identified seven previously unknown risk regions (P < 5 × 10−7). Six regions harbor genes controlling immune responses, including CCR3, IL12A, IL18RAP, RGS1, SH2B3 (nsSNP rs3184504) and TAGAP. Whole-blood IL18RAP mRNA expression correlated with IL18RAP genotype. Type 1 diabetes and celiac disease share HLA-DQ, IL2–IL21, CCR3 and SH2B3 risk regions. Thus, this extensive genome-wide association follow-up study has identified additional celiac disease risk variants in relevant biological pathways.
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Metadata
- Authors
- Hunt, K. A., Zhernakova, A., Turner, G., Heap, G. A. R., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L. C., Ryan, A. W., Panesar, D., Gwilliam, R., Takeuchi, F., McLaren, W. M., Holmes, G. K. T., Howdle, P. D., Walters, J. R. F., Sanders, D. S., Playford, R. J., Trynka, G., Mulder, C. J. J., Mearin, M. L., Verbeek, W. H. M., Trimble, V., Stevens, F. M., O'Morain, C., Kennedy, N. P., Kelleher, D., Pennington, D. J., Strachan, D. P., McArdle, W. L., Mein, C. A., Wapenaar, M. C., Deloukas, P., McGinnis, R., McManus, R., Wijmenga, C., & van Heel, D. A.
- Venue
- Nature Genetics
- Published
- 2008-03-02
- Volume
- 40
- Issue
- 4
- Pages
- 395-402
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2110878879
- Cited by
- 677
- References
- 33
- FWCI
- 72.17
- Type
- journal article
- Language
- en
- Open access
- green
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