Newly identified genetic risk variants for celiac disease related to the immune response
- 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.
- Mearin, M. Luisa
- Verbeek, Wieke H. M.
- Trimble, Valerie
- Stevens, Fiona M.
- O'Morain, Colm
- Kennedy, Nicholas P.
- Kelleher, Dermot
- Pennington, Daniel J.
- Strachan, David P.
- McArdle, Wendy L.
- Mein, Charles A.
- Wapenaar, Martin C.
- Deloukas, Panos
- McGinnis, Ralph
- McManus, Ross
- Wijmenga, Cisca
- van Heel, David A.
DOIAbstract
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 x 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 geno...
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