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

David A van Heel, 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

Nature Genetics 2007 July

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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