MUC5B Promoter Polymorphism and Interstitial Lung Abnormalities

Variants in the gene encoding mucin 5B ( MUC5B ) have been associated with interstitial fibrosis. This study shows a relationship between the presence of the associated variants in MUC5B and interstitial lung abnormalities in participants in a Framingham study cohort. Subclinical interstitial lung a...

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Bibliographic Details
Published in:The New England journal of medicine Vol. 368; no. 23; pp. 2192 - 2200
Main Authors: Hunninghake, Gary M, Hatabu, Hiroto, Okajima, Yuka, Gao, Wei, Dupuis, Josée, Latourelle, Jeanne C, Nishino, Mizuki, Araki, Tetsuro, Zazueta, Oscar E, Kurugol, Sila, Ross, James C, San José Estépar, Raúl, Murphy, Elissa, Steele, Mark P, Loyd, James E, Schwarz, Marvin I, Fingerlin, Tasha E, Rosas, Ivan O, Washko, George R, O'Connor, George T, Schwartz, David A
Format: Journal Article
Language:English
Published: Waltham, MA Massachusetts Medical Society 06.06.2013
Subjects:
Aged
Biological and medical sciences
Chest
Cigarette smoking
Computed tomography
Cough
Female
Fibrosis
Gene polymorphism
General aspects
Genotype
Humans
Longitudinal Studies
Lung - diagnostic imaging
Lung diseases
Lung Diseases, Interstitial - diagnostic imaging
Lung Diseases, Interstitial - genetics
Lung Diseases, Interstitial - physiopathology
Lungs
Male
Medical sciences
Middle Aged
Mucin
Mucin-5B - genetics
Polymorphism, Genetic
Respiratory Function Tests
Smoking
Tomography
Tomography, X-Ray Computed
Total Lung Capacity
Medicine
Promoter
Genetic variability
Lung
Genotype
Anomaly
Interstitial
Respiratory system
Polymorphism
ISSN:0028-4793, 1533-4406, 1533-4406
Online Access:Get full text
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Summary:Variants in the gene encoding mucin 5B ( MUC5B ) have been associated with interstitial fibrosis. This study shows a relationship between the presence of the associated variants in MUC5B and interstitial lung abnormalities in participants in a Framingham study cohort. Subclinical interstitial lung abnormalities are relatively common findings on imaging studies in smokers and elderly persons. 1 Accumulating evidence suggests that these abnormalities may precede the development of clinically relevant pulmonary fibrosis. 1 – 7 However, it is not known whether there is a genetic association between interstitial lung abnormalities and pulmonary fibrosis in the general population. Recently, a single-nucleotide polymorphism (SNP) (rs35705950) in the promoter of the gene encoding mucin 5B ( MUC5B ) was shown to be associated with both familial interstitial pneumonia and sporadic idiopathic pulmonary fibrosis. 8 In addition, the MUC5B variant was associated with increased expression of MUC5B in . . .
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The authors’ affiliations are listed in the Appendix.
ISSN:0028-4793
1533-4406
1533-4406
DOI:10.1056/NEJMoa1216076