title: Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis.
abstract: OBJECTIVE
  Polymorphisms of the interleukin-23 receptor (IL23R) gene have been found to play a role in the development of several autoimmune diseases. Our aim was to examine the possible effect of not only simple individual variants, but of haplotypes composed of them.
  
  
  METHODS
  We analysed 263 patients with psoriasis, 199 patients with Crohn's disease (CD), 282 patients with ulcerative colitis (UC), and 253 controls for rs1884444, rs11805303, rs7517847, rs2201841, rs10889677 and rs11209032 variants.
  
  
  METHODS
  The genotypes were determined by using PCR/RFLP assay. Logistic regression analysis was used to compare the genotype distribution of the polymorphisms and haplotypes between the examined autoimmune diseases and healthy controls.
  
  
  RESULTS
  Rs1884444 was found to confer risk for UC and psoriasis, rs10889677 for CD and psoriasis, while rs2201841 and rs7517847 had effect only in CD. Using these SNPs we could study the susceptibility haplotype profiles in these diseases with special attention to UC. Eight different haplotypes could be differentiated. We found that the SNPs exert their susceptibility character in specific haplotype blocks, and the frequency of one haplotype differed significantly in UC compared with both other diseases and also with healthy controls. This haplotype conferred risk for UC, even while it had a somewhat lower frequency in the other diseases than in controls.
  
  
  CONCLUSIONS
  The data presented here serve as evidence for the need of haplotype analysis instead of just single standing SNP analysis when susceptibility is interpreted.
authors.affiliation: Department of Medical Genetics, University of Pecs, Szigeti 12, 7624 Pecs, Hungary.
authors.forename: Eniko
authors.initials: E
authors.lastname: Safrany
authors.forename: Melinda
authors.initials: M
authors.lastname: Szabo
authors.forename: Marta
authors.initials: M
authors.lastname: Szell
authors.forename: Lajos
authors.initials: L
authors.lastname: Kemeny
authors.forename: Katalin
authors.initials: K
authors.lastname: Sumegi
authors.forename: Bela I
authors.initials: BI
authors.lastname: Melegh
authors.forename: Lili
authors.initials: L
authors.lastname: Magyari
authors.forename: Petra
authors.initials: P
authors.lastname: Matyas
authors.forename: Maria
authors.initials: M
authors.lastname: Figler
authors.forename: Agnes
authors.initials: A
authors.lastname: Weber
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Tulassay
authors.forename: Bela
authors.initials: B
authors.lastname: Melegh
mesh_terms: D003093:Colitis, Ulcerative / Q000235:genetics*; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D011565:Psoriasis / Q000235:genetics*; D018123:Receptors, Interleukin / Q000235:genetics*
chemical_list: C515500:IL23R protein, human; D018123:Receptors, Interleukin