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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Celiac Disease / genetics*
  • Chromosomes, Human, Pair 4 / genetics
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Genome, Human*
  • Humans
  • Interleukin-2 / genetics*
  • Interleukins / genetics*
  • Linkage Disequilibrium
  • Mice
  • Polymorphism, Single Nucleotide
  • Risk Factors

Substances

  • Interleukin-2
  • Interleukins
  • interleukin-21