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- Title
Newly identified genetic risk variants for celiac disease related to the immune response.
- Authors
Hunt, Karen A.; Zhernakova, Alexandra; Turner, Graham; Heap, Graham A. R.; Franke, Lude; Bruinenberg, Marcel; Romanos, Jihane; Dinesen, Lotte C.; Ryan, Anthony W.; Panesar, Davinder; Gwilliam, Rhian; Takeuchi, Fumihiko; McLaren, William M.; Holmes, Geoffrey K. T.; Howdle, Peter D.; Walters, Julian R. F.; Sanders, David S.; Playford, Raymond J.; Trynka, Gosia; Mulder, Chris J. J.
- Abstract
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.
- Subjects
CELIAC disease; MEDICAL genetics; IMMUNE response; ETIOLOGY of diseases; DIABETES; IMMUNOLOGY; CELLULAR immunity
- Publication
Nature Genetics, 2008, Vol 40, Issue 4, p395
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.102