title: The MUC5B promoter polymorphism is associated with idiopathic pulmonary fibrosis in a Mexican cohort but is rare among Asian ancestries.
abstract: BACKGROUND
  Polymorphisms in the MUC5B promoter, TOLLIP, and nine additional genetic loci have been associated with idiopathic pulmonary fibrosis (IPF) within non-Hispanic white populations. It is unknown whether these variants account for risk of IPF in other racial/ethnic populations. We conducted a candidate single nucleotide polymorphism (SNP) association study in cohorts of Mexican and Korean patients with IPF.
  
  
  METHODS
  We chose 12 SNPs from 11 loci that are associated with IPF among non-Hispanic whites and genotyped these SNPs in cohorts of Mexican (83 patients, 111 control subjects) and Korean (239 patients, 87 control subjects) people. Each SNP was tested for association with IPF, after adjusting for age and sex.
  
  
  RESULTS
  The MUC5B promoter SNP rs35705950 was associated with IPF in the Mexican (OR = 7.36, P = .0001), but not the Korean (P = .99) cohort. The SNP in IVD (chromosome15, rs2034650) was significantly associated with pulmonary fibrosis in both the Mexican (OR = 0.40, P = .01) and Korean (OR = 0.13, P = .0008) cohorts. In the Korean cohort, there were no other variants associated with disease. In the Mexican cohort, SNPs on chromosomes 3, 4, and 11 were also associated with disease.
  
  
  CONCLUSIONS
  The strongest identified genetic risk factor for IPF among the non-Hispanic white population, the MUC5B promoter polymorphism, is also a strong risk factor in a Mexican population, but is very rare in a Korean population. The majority of genetic variants that account for risk of IPF in groups other than non-Hispanic whites are unknown. Hispanic and Asian populations should be studied separately to identify genetic risk loci for IPF.
authors.affiliation: Department of Medicine. Electronic address: anna.peljto@ucdenver.edu.
authors.forename: Anna L
authors.initials: AL
authors.lastname: Peljto
authors.affiliation: Instituto Nacional de Enfermedades Respiratorias, Mexico city, Mexico.
authors.forename: Moises
authors.initials: M
authors.lastname: Selman
authors.affiliation: Asan Medical Center, University of Ulsan, College of Medicine, Seoul, South Korea.
authors.forename: Dong Soon
authors.initials: DS
authors.lastname: Kim
authors.affiliation: Department of Medicine.
authors.forename: Elissa
authors.initials: E
authors.lastname: Murphy
authors.affiliation: Yale University, New Haven, CT.
authors.forename: Laura
authors.initials: L
authors.lastname: Tucker
authors.affiliation: Universidad Nacional Autonoma de Mexico, Mexico City, Mexico.
authors.forename: Annie
authors.initials: A
authors.lastname: Pardo
authors.affiliation: Yale University, New Haven, CT.
authors.forename: Jung Su
authors.initials: JS
authors.lastname: Lee
authors.affiliation: Asan Medical Center, University of Ulsan, College of Medicine, Seoul, South Korea.
authors.forename: Wonjun
authors.initials: W
authors.lastname: Ji
authors.affiliation: Department of Medicine; Department of Medicine, National Jewish Health, Denver, CO.
authors.forename: Marvin I
authors.initials: MI
authors.lastname: Schwarz
authors.affiliation: Department of Medicine.
authors.forename: Ivana V
authors.initials: IV
authors.lastname: Yang
authors.affiliation: Department of Medicine; Department of Immunology, Department of Epidemiology, University of Colorado Denver, Denver, CO; Department of Medicine, National Jewish Health, Denver, CO.
authors.forename: David A
authors.initials: DA
authors.lastname: Schwartz
authors.affiliation: Department of Immunology, Department of Epidemiology, University of Colorado Denver, Denver, CO.
authors.forename: Tasha E
authors.initials: TE
authors.lastname: Fingerlin
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000208:ethnology* / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D008800:Mexico; D008875:Middle Aged; D055257:Mucin-5B / Q000235:genetics; D056910:Republic of Korea; D015398:Signal Transduction / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C524578:MUC5B protein, human; D055257:Mucin-5B; C410602:TOLLIP protein, human