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Mapping of a disease susceptibility locus in chromosome 6p in Japanese patients with ulcerative colitis
- Source :
- Genes & Immunity. 5:477-483
- Publication Year :
- 2004
- Publisher :
- Springer Science and Business Media LLC, 2004.
-
Abstract
- Ulcerative colitis (UC) is a multifactorial disorder with both genetic and environmental factors. HLA-B*52 and DRB1*1502 are reported to be strongly associated with UC in Japan. However, the actual susceptible gene has not been identified yet. In this study, to map precisely the susceptible locus for UC, we performed association mapping in the chromosome 6p using 24 microsatellite markers distributed over 16 Mb. A total of 183 patients with UC and 186 healthy controls (HC) were included in this study. In all, 15 markers around the human leukocyte antigen (HLA) region showed statistical significance in the genotypic differentiation test concerned with the allelic distribution between the UC and HC. Especially, the markers between the centromeric region of HLA class I and the telomeric region of class III showed remarkably low P-values and the allele239 of C2-4-4 in class I marker showed the strongest association (Pc=2.9 x 10(-9): OR=3.74, 95% CI=2.50-5.60). Furthermore, we found strong linkage disequilibrium (LD) between the allele239 of C2-4-4 and HLA-B*52 in haplotype analysis. These results provide evidence that, in Japanese, important determinants of disease susceptibility to UC may exist in HLA, especially between the centromeric region of class I and the telomeric region of class III, under the strong LD with HLA-B*52.
- Subjects :
- Adult
Male
Linkage disequilibrium
Immunology
Locus (genetics)
Human leukocyte antigen
Biology
Linkage Disequilibrium
Major Histocompatibility Complex
Japan
Genotype
Genetics
Humans
Allele
Association mapping
Alleles
Genetics (clinical)
Haplotype
Chromosome Mapping
Telomere
HLA-B Antigens
Case-Control Studies
Microsatellite
Chromosomes, Human, Pair 6
Colitis, Ulcerative
Female
Disease Susceptibility
Microsatellite Repeats
Subjects
Details
- ISSN :
- 14765470 and 14664879
- Volume :
- 5
- Database :
- OpenAIRE
- Journal :
- Genes & Immunity
- Accession number :
- edsair.doi.dedup.....bff5d1b6457b1d413f2336973d00e4f0