High density mapping of pericentromeric chromosome 12 in inflammatory bowel disease

Hampe, Jochen; Lynch, Nicholas J.; Bridger, Stephen; Deventer, Sander van; Stokkers, Pieter; Forbes, Alastair; Lennard‐Jones, J. E.; Foelsch, Ullrich R.; Mathew, Christopher; Curran, Mark; Schreiber, Stefan

doi:10.1016/s0016-5085(00)83423-x

Cited by 2 publications

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“…Contradictory reports, however, failed to demonstrate this linkage [Brant et al, 1998; Rioux et al, 1998]. The central region of IBD2 surrounding D12S83 was recently refined by using radiation hybridization [Hampe et al, 2000]. Three microsatellites were mapped to D12S83 within a 0.5 cM distance, further refining this region.…”

Section: Introductionmentioning

confidence: 99%

Association of ulcerative colitis with the inflammatory bowel disease susceptibility locus IBD2 in non‐Jewish Caucasians and evidence of genetic heterogeneity among racial and ethnic populations with Crohn disease

et al. 2002

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Genomewide scanning has been used to identify chromosomal regions encoding susceptibility loci to inflammatory bowel disease (IBD). The greatest evidence for linkage to IBD has been reported for a region of chromosome 12q14 surrounding the microsatellite marker D12S83, with a logarithm of odds score of 5.47 and a positive transmission disequilibrium test, and which was subsequently named IBD2. We wished to confirm this locus by genotyping the highly polymorphic microsatellites D12S1022, D12S1056, and D12S83, spanning a continuous region on chromosome 12 of 342 kb, in a cohort of nonrelated individuals with ulcerative colitis (89 patients), Crohn disease (121 patients), and population-based control subjects (100 patients). In non-Jewish Caucasians, one D12S1022 allele, one D12S1056 genotype, and three D12S83 alleles were found to have statistically significant differences in distribution between the two disease groups and the control population. These data support a significant association of IBD with the IBD2 locus in close vicinity to the three markers studied. The replication of genetic risk loci in a case control association study may indicate susceptibility genes in this region and may facilitate identification of candidate genes for IBD. Subgroup analysis revealed a notable difference in genotype distribution among Jewish Caucasian and African American patients affected with Crohn disease when compared with similarly affected non-Jewish Caucasians. Using Fisher exact test, statistically significant distribution differences were observed for D12S1022 and D12S83. These data indicate that there may be significant genetic heterogeneity between different ethnic and racial IBD populations or may simply reflect differences in marker allele frequencies among populations.

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Section: Introductionmentioning

confidence: 99%

Association of ulcerative colitis with the inflammatory bowel disease susceptibility locus IBD2 in non‐Jewish Caucasians and evidence of genetic heterogeneity among racial and ethnic populations with Crohn disease

et al. 2002

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The genetics of inflammatory bowel disease

Ahmad

Satsangi

McGovern

et al. 2001

Aliment Pharmacol Ther

142

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Recent epidemiological, clinical and molecular studies have provided strong evidence that inherited predisposition is important in the pathogenesis of chronic inflammatory bowel diseases. The model most consistent with the epidemiological data suggests that Crohn’s disease and ulcerative colitis are related polygenic diseases, sharing some but not all susceptibility genes. Investigators throughout the world have applied the complementary techniques of genome‐wide scanning and candidate gene analysis. Four areas of linkage have been widely replicated on chromosomes 16 (IBD1), 12 (IBD2), 6 (IBD3—the HLA region), and most recently on chromosome 14. Fine mapping of these regions is underway. Of the ‘positional’ candidate genes, most attention has centred on the genes of the major histocompatibility complex. Genes within this region may determine disease susceptibility, behaviour, complications and response to therapy. Hope continues that studies of inflammatory bowel disease genetics will provide fresh insight into disease pathogenesis and soon deliver clinical applications.

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High density mapping of pericentromeric chromosome 12 in inflammatory bowel disease

Cited by 2 publications

References 0 publications

Association of ulcerative colitis with the inflammatory bowel disease susceptibility locus IBD2 in non‐Jewish Caucasians and evidence of genetic heterogeneity among racial and ethnic populations with Crohn disease

Association of ulcerative colitis with the inflammatory bowel disease susceptibility locus IBD2 in non‐Jewish Caucasians and evidence of genetic heterogeneity among racial and ethnic populations with Crohn disease

The genetics of inflammatory bowel disease

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