Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

Nat Genet. 2009 Feb;41(2):216-20. doi: 10.1038/ng.275. Epub 2009 Jan 4.

Abstract

Ulcerative colitis is a chronic inflammatory disease of the colon that presents as diarrhea and gastrointestinal bleeding. We performed a genome-wide association study using DNA samples from 1,052 individuals with ulcerative colitis and preexisting data from 2,571 controls, all of European ancestry. In an analysis that controlled for gender and population structure, ulcerative colitis loci attaining genome-wide significance and subsequent replication in two independent populations were identified on chromosomes 1p36 (rs6426833, combined P = 5.1 x 10(-13), combined odds ratio OR = 0.73) and 12q15 (rs1558744, combined P = 2.5 x 10(-12), combined OR = 1.35). In addition, combined genome-wide significant evidence for association was found in a region spanning BTNL2 to HLA-DQB1 on chromosome 6p21 (rs2395185, combined P = 1.0 x 10(-16), combined OR = 0.66) and at the IL23R locus on chromosome 1p31 (rs11209026, combined P = 1.3 x 10(-8), combined OR = 0.56; rs10889677, combined P = 1.3 x 10(-8), combined OR = 1.29).

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Butyrophilins
  • Case-Control Studies
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 6
  • Colitis, Ulcerative / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Genotype
  • HLA-DQ Antigens / genetics
  • HLA-DQ beta-Chains
  • Humans
  • Male
  • Membrane Glycoproteins / genetics
  • Polymorphism, Single Nucleotide
  • Receptors, Interleukin / genetics
  • Recombination, Genetic
  • Risk Factors

Substances

  • BTNL2 protein, human
  • Butyrophilins
  • HLA-DQ Antigens
  • HLA-DQ beta-Chains
  • HLA-DQB1 antigen
  • IL23R protein, human
  • Membrane Glycoproteins
  • Receptors, Interleukin

Grant support