Research Project
Grant-in-Aid for Research Activity Start-up
NKX2. 3 is a promising candidate for susceptibility genes to inflammatory bowel disease (IBD). The aim of this study was to perform a candidate gene analysis of NKX2. 3 in Japanese IBD and to examine how the risk allele (haplotype)affects susceptibility to IBD using allelic expression ratios of NKX2. 3 mRNA in the involved colonic mucosa. Two SNPs (rs10883365 and rs888208)were significantly associated with UC and 1 SNP (rs10883365)was associated with CD. Haplotype B formed by the 3 SNPs demonstrated a significant association with UC. Subgroup analyses indicated that rs10883365 was significantly associated mainly with colonic CD. The allelic expression ratios of NKX2. 3 mRNA transcribed from haplotype B (risk haplotype)to haplotype A (non-risk haplotype)in the involved mucosa from 10 IBD patients were significantly higher than the allelic ratio of respective genomic DNA. We confirmed the association of SNP rs10883365 located in the 5' flanking region of NKX2-3 with Japanese UC and colonic CD and determined the risk haplotype (haplotype B)for UC. The demonstrated allelic expression imbalance supports the idea that the risk haplotype of NKX2. 3 confers susceptibility to UC through increasing expression of NKX2. 3 mRNA in the colonic mucosa.
All 2012 2011
All Journal Article (5 results) (of which Peer Reviewed: 2 results)
日本臨床
Volume: 70 Pages: 66-71
Intestine
Volume: 15 Pages: 415-421
Hum Immunol
Volume: 72(7) Pages: 587-91
Volume: 72 Pages: 587-591
