A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21 by 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, Wijmenga Cisca in Nature genetics (2007).

[PMID: 17558408] PubMed


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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