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. 2007 Jul;39(7):827-9.
doi: 10.1038/ng2058. Epub 2007 Jun 10.

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

David A van Heel  1 , Lude Franke, Karen A Hunt, Rhian Gwilliam, Alexandra Zhernakova, Mike Inouye, Martin C Wapenaar, Martin C N M Barnardo, Graeme Bethel, Geoffrey K T Holmes, Con Feighery, Derek Jewell, Dermot Kelleher, Parveen Kumar, Simon Travis, Julian R F Walters, David S Sanders, Peter Howdle, Jill Swift, Raymond J Playford, William M McLaren, M Luisa Mearin, Chris J Mulder, Ross McManus, Ralph McGinnis, Lon R Cardon, Panos Deloukas, Cisca Wijmenga
Affiliations

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

David A van Heel et al. Nat Genet. 2007 Jul.

Abstract

We tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding (rs13119723; P = 2.0 x 10(-7)) was in the KIAA1109-TENR-IL2-IL21 linkage disequilibrium block. We independently confirmed association in two further collections (strongest association at rs6822844, 24 kb 5' of IL21; meta-analysis P = 1.3 x 10(-14), odds ratio = 0.63), suggesting that genetic variation in this region predisposes to celiac disease.

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Figures

Figure 1
Figure 1. Analysis of chromosome 4q27 region around rs13119723
A ∼480kb region between rs6835946 and rs6840978 is shown (build 36 map), with single SNP allelic association test P values, genes, and linkage disequilibrium statistics (r2) determined from the UK dataset.
See this image and copyright information in PMC

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