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The IBD2 locus on chromosome 12 has been linked to both Crohn disease (CD) and ulcerative colitis (UC) but has not been detected in some CD-dominated data sets. In the present study, we genotyped 581 relative pairs with inflammatory bowel disease (252 from CD-only families, 138 from UC-only families, and 191 from mixed families containing cases of both CD and UC), using 12 markers spanning the IBD2 locus. A GENEHUNTER-PLUS multipoint LOD score of 3.91 was detected for pairs from UC-only families, compared with 1.66 for CD-only and 1.29 for mixed families. The difference between the LOD scores for UC and CD was significant in two different tests for heterogeneity (P=.0057 for one test and P=.0375 for the other). IBD2 thus appears to make a major contribution to UC susceptibility but to have only a relatively minor effect with regard to CD, for which there may be substantially more locus heterogeneity.

Original publication




Journal article


Am J Hum Genet

Publication Date





1605 - 1610


Alleles, Chromosome Mapping, Chromosomes, Human, Pair 12, Colitis, Ulcerative, Computer Simulation, Crohn Disease, Genetic Heterogeneity, Genetic Linkage, Genetic Predisposition to Disease, Heterozygote, Humans, Lod Score, Matched-Pair Analysis, Microsatellite Repeats, Nuclear Family, Software, Statistics, Nonparametric, United Kingdom, United States