The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease

Colin L Noble, Elaine R Nimmo, Hazel Drummond, Gwo-Tzer Ho, Albert Tenesa, Linda Smith, Norman Anderson, Ian D R Arnott, Jack Satsangi

Research output: Contribution to journalArticlepeer-review

Abstract

Recent data suggest that polymorphisms in the organic cation transporter (OCTN) genes OCTN1 (SLC22A4) and OCTN2 (SLC22A5) represent disease-causing mutations within the IBD5 locus (chromosome 5q31). We investigated associations with disease susceptibility, phenotype, and evidence for epistasis with CARD15 in 679 patients with Crohn's disease (CD) or ulcerative colitis (UC).
Original languageEnglish
Pages (from-to)1854-64
Number of pages11
JournalGastroenterology
Volume129
Issue number6
DOIs
Publication statusPublished - Dec 2005

Keywords

  • Adult
  • Age of Onset
  • Chromosomes, Human, Pair 5
  • Colitis, Ulcerative
  • Crohn Disease
  • Disease Progression
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Organic Cation Transport Proteins
  • Phenotype
  • Polymorphism, Genetic
  • Protein Isoforms

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