Genotype-phenotype analysis of the Crohn's disease susceptibility haplotype on chromosome 5q31.

ABSTRACT: BACKGROUND AND AIMS:Recent molecular data suggest that genetic factors may underlie the disease heterogeneity observed in both ulcerative colitis (UC) and Crohn's disease (CD). A locus on chromosome 5q has been implicated in susceptibility to CD, and recently refined by linkage disequilibrium mapping to a conserved 250 kb haplotype (5q31). No data regarding the contribution of this locus to clinical phenotype exist. In this case control study, we investigated the contribution of this haplotype to both susceptibility and phenotype of CD and UC. PATIENTS AND METHODS:We studied 330 Caucasian CD and 457 UC patients recruited from a single UK centre. Association with disease susceptibility and phenotype was analysed with haplotypes reconstructed from three single nucleotide polymorphisms chosen

SUBMITTER: Armuzzi A 

PROVIDER: S-EPMC1773736 | biostudies-literature | 2003 Aug

REPOSITORIES: biostudies-literature