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Research Department of Genetics
University Medical Center Groningen

Risk loci for celiac disease, Trynka et al. in Nature Genetics

09 november 2011

From Nature Genetics latest highlights Vol. 43(11), Nov. 2011

Risk loci for celiac disease

Cisca Wijmenga, David van Heel and colleagues used a custom, high-density genotyping chip to examine 183 immune-related loci for their role in celiac disease. They report 13 new regions associated with celiac disease risk, identify multiple independent signals at several loci and refine the localization of many previously reported risk signals.


Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

by Gosia Trynka et al.

The following members of the Celiac Group at the UMCG contributed to this paper: Gosia Trynka, Jihane Romanos, Agata Szperl, Rodrigo Coutinho de Almeida, Cleo C van Diemen, Lude Franke, Karin Fransen, Javier Gutierrez, Barbara Hrdlickova, Mitja Mitrovic, Mathieu Platteel, Isis Ricaño-Ponce, Cisca Wijmenga et al.



Published online 6 November 2011


Using variants from the 1000 Genomes Project pilot European CEU dataset and data from additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously associated with immune-mediated diseases in 12,041 individuals with celiac disease (cases) and 12,228 controls. We identified 13 new celiac disease risk loci reaching genome-wide significance, bringing the number of known loci (including the HLA locus) to 40. We found multiple independent association signals at over one-third of these loci, a finding that is attributable to a combination of common, low-frequency and rare genetic variants. Compared to previously available data such as those from HapMap3, our dense genotyping in a large sample collection provided a higher resolution of the pattern of linkage disequilibrium and suggested localization of many signals to finer scale regions. In particular, 29 of the 54 fine-mapped signals seemed to be localized to single genes and, in some instances, to gene regulatory elements. Altogether, we define the complex genetic architecture of the risk regions of and refine the risk signals for celiac disease, providing the next step toward uncovering the causal mechanisms of the disease.

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