title: MUC5B promoter polymorphism and interstitial lung abnormalities.
abstract: BACKGROUND
  A common promoter polymorphism (rs35705950) in MUC5B, the gene encoding mucin 5B, is associated with idiopathic pulmonary fibrosis. It is not known whether this polymorphism is associated with interstitial lung disease in the general population.
  
  
  METHODS
  We performed a blinded assessment of interstitial lung abnormalities detected in 2633 participants in the Framingham Heart Study by means of volumetric chest computed tomography (CT). We evaluated the relationship between the abnormalities and the genotype at the rs35705950 locus.
  
  
  RESULTS
  Of the 2633 chest CT scans that were evaluated, interstitial lung abnormalities were present in 177 (7%). Participants with such abnormalities were more likely to have shortness of breath and chronic cough and reduced measures of total lung and diffusion capacity, as compared with participants without such abnormalities. After adjustment for covariates, for each copy of the minor rs35705950 allele, the odds of interstitial lung abnormalities were 2.8 times greater (95% confidence interval [CI], 2.0 to 3.9; P<0.001), and the odds of definite CT evidence of pulmonary fibrosis were 6.3 times greater (95% CI, 3.1 to 12.7; P<0.001). Although the evidence of an association between the MUC5B genotype and interstitial lung abnormalities was greater among participants who were older than 50 years of age, a history of cigarette smoking did not appear to influence the association.
  
  
  CONCLUSIONS
  The MUC5B promoter polymorphism was found to be associated with interstitial lung disease in the general population. Although this association was more apparent in older persons, it did not appear to be influenced by cigarette smoking. (Funded by the National Institutes of Health and others; ClinicalTrials.gov number, NCT00005121.).
authors.affiliation: Pulmonary and Critical Care Division, Brigham and Women's Hospital, 75 Francis St., Boston, MA 02115, USA. ghunninghake@partners.org
authors.forename: Gary M
authors.initials: GM
authors.lastname: Hunninghake
authors.forename: Hiroto
authors.initials: H
authors.lastname: Hatabu
authors.forename: Yuka
authors.initials: Y
authors.lastname: Okajima
authors.forename: Wei
authors.initials: W
authors.lastname: Gao
authors.forename: Josée
authors.initials: J
authors.lastname: Dupuis
authors.forename: Jeanne C
authors.initials: JC
authors.lastname: Latourelle
authors.forename: Mizuki
authors.initials: M
authors.lastname: Nishino
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Araki
authors.forename: Oscar E
authors.initials: OE
authors.lastname: Zazueta
authors.forename: Sila
authors.initials: S
authors.lastname: Kurugol
authors.forename: James C
authors.initials: JC
authors.lastname: Ross
authors.forename: Raúl
authors.initials: R
authors.lastname: San José Estépar
authors.forename: Elissa
authors.initials: E
authors.lastname: Murphy
authors.forename: Mark P
authors.initials: MP
authors.lastname: Steele
authors.forename: James E
authors.initials: JE
authors.lastname: Loyd
authors.forename: Marvin I
authors.initials: MI
authors.lastname: Schwarz
authors.forename: Tasha E
authors.initials: TE
authors.lastname: Fingerlin
authors.forename: Ivan O
authors.initials: IO
authors.lastname: Rosas
authors.forename: George R
authors.initials: GR
authors.lastname: Washko
authors.forename: George T
authors.initials: GT
authors.lastname: O'Connor
authors.forename: David A
authors.initials: DA
authors.lastname: Schwartz
mesh_terms: D000368:Aged; D005260:Female; D005838:Genotype; D006801:Humans; D008137:Longitudinal Studies; D008168:Lung / Q000000981:diagnostic imaging; D017563:Lung Diseases, Interstitial / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D055257:Mucin-5B / Q000235:genetics*; D011110:Polymorphism, Genetic; D012129:Respiratory Function Tests; D012907:Smoking; D014057:Tomography, X-Ray Computed; D014109:Total Lung Capacity
chemical_list: C524578:MUC5B protein, human; D055257:Mucin-5B