PMID- 15215890 OWN - NLM STAT- MEDLINE DCOM- 20050210 LR - 20061115 IS - 1466-4879 (Print) IS - 1466-4879 (Linking) VI - 5 IP - 6 DP - 2004 Sep TI - Mapping of a disease susceptibility locus in chromosome 6p in Japanese patients with ulcerative colitis. PG - 477-83 AB - 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. FAU - Nomura, E AU - Nomura E AD - Division of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai, Japan. enomura@int3.med.tohoku.ac.jp FAU - Kinouchi, Y AU - Kinouchi Y FAU - Negoro, K AU - Negoro K FAU - Kojima, Y AU - Kojima Y FAU - Oomori, S AU - Oomori S FAU - Sugimura, M AU - Sugimura M FAU - Hiroki, M AU - Hiroki M FAU - Takagi, S AU - Takagi S FAU - Aihara, H AU - Aihara H FAU - Takahashi, S AU - Takahashi S FAU - Hiwatashi, N AU - Hiwatashi N FAU - Shimosegawa, T AU - Shimosegawa T LA - eng PT - Comparative Study PT - Journal Article PL - England TA - Genes Immun JT - Genes and immunity JID - 100953417 RN - 0 (HLA-B Antigens) SB - IM MH - Adult MH - Alleles MH - Case-Control Studies MH - *Chromosome Mapping MH - Chromosomes, Human, Pair 6/*genetics MH - Colitis, Ulcerative/*genetics MH - Disease Susceptibility MH - Female MH - HLA-B Antigens/*genetics MH - Humans MH - Japan MH - Linkage Disequilibrium MH - Major Histocompatibility Complex/*genetics MH - Male MH - Microsatellite Repeats/genetics MH - Telomere/genetics EDAT- 2004/06/25 05:00 MHDA- 2005/02/11 09:00 CRDT- 2004/06/25 05:00 PHST- 2004/06/25 05:00 [pubmed] PHST- 2005/02/11 09:00 [medline] PHST- 2004/06/25 05:00 [entrez] AID - 6364114 [pii] AID - 10.1038/sj.gene.6364114 [doi] PST - ppublish SO - Genes Immun. 2004 Sep;5(6):477-83. doi: 10.1038/sj.gene.6364114.