| |
著者: Minako Hijikata, Ikumi Matsushita, Goh Tanaka, Tomoko Tsuchiya, Hideyuki Ito, Katsushi Tokunaga, Jun Ohashi, Sakae Homma, Yoichiro Kobashi, Yoshio Taguchi, Arata Azuma, Shoji Kudoh, Naoto Keicho
雑誌名: Hum Genet. 2011 Feb;129(2):117-28. doi: 10.1007/s00439-010-0906-4. Epub 2010 Oct 28.
Abstract/Text
Diffuse panbronchiolitis (DPB) is a rare complex genetic disease affecting East Asians and is strongly associated with the class I human leukocyte antigens (HLA)-B54 in Japanese and HLA-A11 in Koreans. We recently showed that an HLA-associated major susceptibility gene for DPB is probably located within the 200 kb in the class I region 300 kb telomeric of the HLA-B locus on the chromosome 6p21.3. We cloned two novel mucin-like genes designated panbronchiolitis related mucin-like 1 and 2 (PBMUCL1 and PBMUCL2) in the candidate region, which form a mucin-like gene cluster together with two adjacent genes, MUC21 and DPCR1. PBMUCL1 gene expression was remarkably upregulated by polyinosine-polycytidylic acid [poly(I:C)] stimulation in normal human bronchial epithelial cells redifferentiated at the air-liquid interface. We found genetic polymorphisms in PBMUCL1 gene which were associated with DPB: the A-allele of the PBMUCL1 intron 2 single nucleotide polymorphism (SNP) was positively associated and variable numbers of tandem repeats (VNTR) polymorphism in exon 3 (1,890-base pair deletion) was negatively associated. Despite a strong association with HLA-B in the Japanese, the mucin-like gene PBMUCL1 is also one of the candidate genes of DPB susceptibility.
PMID 20981447 Hum Genet. 2011 Feb;129(2):117-28. doi: 10.1007/s00439-010-0906-4. Epub 2010 Oct 28.
|
