Newly identified genetic risk variants for celiac disease related to the immune response
KA Hunt, A Zhernakova, G Turner, GAR Heap… - Nature …, 2008 - nature.com
Nature genetics, 2008•nature.com
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 …
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 …
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.
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