Novel celiac disease genetic determinants related to the immune response
By K. Hunt, A. Zhernakova, Graham Turner, Graham A. R. Heap, Lude Franke, M. Bruinenberg, J. Romanos, L. Dinesen, A. Ryan, Davinder Panesar and 27 more. Nature Genetics, 2008
702 citations recorded by the source corpus.
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.
Subfields: Gastroenterology, Immunology, Surgery
View Paper: https://www.semanticscholar.org/paper/5442d1a0dcabe125d74dba2cd9c28d29ff4b9902
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