一项针对乳糜泻的全基因组关联研究确定了包含白细胞介素2（IL2）和白细胞介素21（IL21）的区域中的风险变异。
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
作者信息
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
机构信息
Centre for Gastroenterology, Institute of Cell and Molecular Science, Queen Mary University of London, London E1 2AT, UK.
出版信息
Nat Genet. 2007 Jul;39(7):827-9. doi: 10.1038/ng2058. Epub 2007 Jun 10.
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.
摘要
我们对310,605个单核苷酸多态性（SNP）进行了关联测试，涉及778例乳糜泻患者和1,422名对照。在HLA区域之外，最显著的发现（rs13119723；P = 2.0×10⁻⁷）位于KIAA1109 - TENR - IL2 - IL21连锁不平衡区域。我们在另外两个样本集中独立验证了这种关联（最强关联位于IL21基因5'端24 kb处的rs6822844；荟萃分析P = 1.3×10⁻¹⁴，优势比 = 0.63），这表明该区域的基因变异易导致乳糜泻。
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