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

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

doi:10.1038/ng2058

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

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

来源：Nature Genetics, 2007, 39(7): 827-829.

DOI：10.1038/ng2058

摘要

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.