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  • Title: Evidence for inflammatory bowel disease of a susceptibility locus on the X chromosome.
    Author: Vermeire S, Satsangi J, Peeters M, Parkes M, Jewell DP, Vlietinck R, Rutgeerts P.
    Journal: Gastroenterology; 2001 Mar; 120(4):834-40. PubMed ID: 11231937.
    Abstract:
    BACKGROUND & AIMS: The technique of genomewide scanning has been applied successfully in inflammatory bowel disease (IBD). A number of putative susceptibility loci have been identified through genomewide searches including replicated regions of linkage on chromosomes 12, 16, 6 (the HLA region), and 14. We have investigated the contribution of the X chromosome in 145 Belgian affected relative pairs. METHODS: In the first stage of the study, 79 (68 CD, 11 mixed) sibling pairs were genotyped at 12 microsatellite markers covering the X chromosome. In the second stage, 10 additional markers in the X-pericentromeric region were studied in the families involved in stage 1 together with 62 additional families (52 sibling pairs, 14 second-degree relative pairs). RESULTS: In the first stage, evidence for linkage was found over a 30-cM pericentromeric region spanning dXs991, dXs990, and dXs8096 (multipoint maximum LOD score in the CD subgroup, 2.5; P = 0.0003). The remainder of the X chromosome was excluded (exclusion under LOD-2) for a locus with lambda(s) = 2. Fine mapping in the second stage confirmed linkage, and narrowed and shifted the linked region to Xq21.3 around dXs1203 (nonparametric linkage [NPL], 2.90; P = 0.0017). The NPL-1 interval around the linkage peak comprises 19.7 cM. CONCLUSIONS: These data provide suggestive evidence for the presence and chromosomal location of an X-linked susceptibility gene in IBD.
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