title: MUC5B promoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis.
abstract: OBJECTIVE
  A single nucleotide polymorphism (SNP) rs35705950 in the promoter of Mucin 5B (MUC5B) has been reported to be associated with idiopathic pulmonary fibrosis (IPF) mainly in Caucasian populations. This study was conducted to confirm the association between rs35705950 and IPF in a Japanese population.
  
  
  METHODS
  Genomic DNA was extracted from blood samples in 384 Japanese and 137 German subjects, and rs35705950 was detected by commercially available genotyping assay.
  
  
  RESULTS
  The genotype distributions of rs35705950 in Japanese patients with IPF, nonspecific interstitial pneumonia (NSIP) and healthy subjects (HS) were significantly different from those in the German counterparts (P < 0.001, P < 0.001 and P = 0.010, respectively). The rs35705950 T allele frequencies in patients with IPF, NSIP and HS were 3.4%, 1.7% and 0.8%, respectively in the Japanese, while they were 33.1%, 27.4% and 4.3%, respectively in the German cohort. The T allele frequencies in patients with IPF were significantly higher than those in HS both in the Japanese (P = 0.031) and German (P < 0.001) cohorts.
  
  
  CONCLUSIONS
  The association between rs35705950 and IPF was also present in this Japanese cohort, but was not as strong as the German counterpart. To our knowledge, this is the first study to successfully validate the association between rs35705950 and IPF in a Japanese ethnicity.
authors.affiliation: Department of Molecular and Internal Medicine, Graduate School of Biomedical Science, Hiroshima University, Hiroshima, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Horimasu
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Ohshimo
authors.forename: Francesco
authors.initials: F
authors.lastname: Bonella
authors.forename: Sonosuke
authors.initials: S
authors.lastname: Tanaka
authors.forename: Nobuhisa
authors.initials: N
authors.lastname: Ishikawa
authors.forename: Noboru
authors.initials: N
authors.lastname: Hattori
authors.forename: Nobuoki
authors.initials: N
authors.lastname: Kohno
authors.forename: Josune
authors.initials: J
authors.lastname: Guzman
authors.forename: Ulrich
authors.initials: U
authors.lastname: Costabel
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D015994:Incidence; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D055257:Mucin-5B / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: C524578:MUC5B protein, human; D055257:Mucin-5B; D004247:DNA
keywords: genetic; interstitial lung disease; lung fibrosis; single nucleotide polymorphism