Newly identified genetic risk variants for celiac disease related to the immune response
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Open Access
- 2 March 2008
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 40 (4) , 395-402
- https://doi.org/10.1038/ng.102
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.Keywords
This publication has 31 references indexed in Scilit:
- Two independent alleles at 6q23 associated with risk of rheumatoid arthritisNature Genetics, 2007
- A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21Nature Genetics, 2007
- Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controlsNature, 2007
- Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetesNature Genetics, 2007
- Replicating genotype–phenotype associationsNature, 2007
- Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunityNature Genetics, 2007
- A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHCNature Genetics, 2006
- Principal components analysis corrects for stratification in genome-wide association studiesNature Genetics, 2006
- Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studiesNature Genetics, 2006
- A gene atlas of the mouse and human protein-encoding transcriptomesProceedings of the National Academy of Sciences, 2004