eCite Digital Repository

Newly identified genetic risk variants for celiac disease related to the immune response


Hunt, KA and Zhernakova, A and Turner, G and Heap, GAR and Franke, L and Bruinenberg, M and Romanos, J and Dinesen, LC and Ryan, A W and Panesar, D and Gwilliam, R and Takeuchi, F and McLaren, WM and Holmes, GKT and Howdle, PD and Walters, JRF and Sanders, DS and Playford, RJ and Trynka, G and Mulder, CJJ and Mearin, ML and Verbeek, WHM and Trimble, V and Stevens, FM and O'Morain, C and Kennedy, NP and Kelleher, D and Pennington, DJ and Strachan, DP and McArdle, WL and Mein, CA and Wapenaar, MC and Deloukas, P and McGinnis, R and McManus, R and Wijmenga, C and van Heel, DA, Newly identified genetic risk variants for celiac disease related to the immune response, Nature Genetics, 40, (4) pp. 395-402. ISSN 1061-4036 (2008) [Refereed Article]

DOI: doi:10.1038/ng.102


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. © 2008 Nature Publishing Group.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Clinical sciences
Research Field:Medical genetics (excl. cancer genetics)
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Playford, RJ (Professor Ray Playford)
ID Code:72981
Year Published:2008
Web of Science® Times Cited:480
Deposited By:Research Division
Deposited On:2011-09-05
Last Modified:2011-09-05

Repository Staff Only: item control page