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, 39 (7), 827-9

A Genome-Wide Association Study for Celiac Disease Identifies Risk Variants in the Region Harboring IL2 and IL21

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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.

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.

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.

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