TY - JOUR T1 - Genetic analysis of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis JF - European Respiratory Journal JO - Eur Respir J VL - 38 IS - Suppl 55 SP - p447 AU - Minako Hijikata AU - Ikumi Matsushita AU - Hideyuki Ito AU - Jun Ohashi AU - Sakae Homma AU - Yoshio Taguchi AU - Arata Azuma AU - Shoji Kudoh AU - Naoto Keicho Y1 - 2011/09/01 UR - http://erj.ersjournals.com/content/38/Suppl_55/p447.abstract N2 - Background: Diffuse panbronchiolitis (DPB), which is characterized by chronic inflammation in respiratory bronchioles and sinobronchial infection, is a complex genetic disease affecting East Asians. DPB is strongly associated with HLA-B54 in Japanese and HLA-A11 in Koreans. We hypothesized that a major susceptibility gene for DPB might be located between the HLA-A and HLA-B loci and recently cloned two novel mucin-like genes designated panbronchiolitis related mucin-like 1 and 2 (PBMUCL1 and PBMUCL2) in the candidate region. We found disease-associated genetic polymorphisms in the new genes.Objectives: The aim of the study is to compare the genetic polymorphisms of the genes between Japanese and European descent, because genetic predisposition to DPB has been assumed only in Asians.Methods: We genotyped polymorphisms in 50 DNA samples of European descent and compared their frequency and haplotype structure with 108 Japanese DPB patients and 98 Japanese controls. Expression of PBMUCL1 transcript was investigated in primary-cultured human bronchial epithelial (HBE) cells.Results: The haplotypes were different between European descent and Japanese. The mRNA expression pattern of the HBE cells with Asian-specific haplotype was analyzed.Conclusions: Further analysis of newly identified mucin-like genes may provide insights into the pathogenesis of the disease. ER -