Exploration of the MUC5B promoter variant and ILD risk in patients with autoimmune myositis

Cheilonda Johnson, Paul Rosen, Thomas Lloyd, Maureen Horton, Lisa Christopher-Stine, Chester V. Oddis, Andrew L. Mammen, Sonye Danoff

Research output: Contribution to journalArticle

Abstract

Interstitial lung disease (ILD) is common in patients with autoimmune myositis but factors that determine susceptibility are unknown. Familial and sporadic idiopathic pulmonary fibrosis (IPF) are strongly associated with a single nucleotide polymorphism in the promoter region of MUC5B (rs35705950). We sought to determine the relationship between MUC5B polymorphism expression and myositis-ILD. The MUC5B minor allele frequency (MAF) was examined in 402 European American participants; 60 with idiopathic interstitial pneumonia (IIP), 208 with myositis-ILD, and 134 unaffected controls. The MUC5B minor allele frequency was 26%, 8%, and 7% in those with non-myositis ILD, myositis-ILD, and unaffected controls, respectively. The MUC5B variant was associated with IIP (OR 4.10; p < 0.001). The MUC5B polymorphism was not significantly associated with myositis-ILD (OR 1.08; p = 0.80)]. We found MUC5B MAFs in our IIP cohort similar to published frequencies for subjects with familial and sporadic IPF. Overall, the MUC5B promoter variant does not appear to contribute to ILD risk in myositis patients.

Original languageEnglish (US)
Pages (from-to)52-54
Number of pages3
JournalRespiratory Medicine
Volume130
DOIs
StatePublished - Sep 1 2017

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Myositis
Interstitial Lung Diseases
Idiopathic Interstitial Pneumonias
Idiopathic Pulmonary Fibrosis
Gene Frequency
Genetic Promoter Regions
Single Nucleotide Polymorphism

Keywords

  • Dermatomyositis
  • Interstitial lung diseases
  • Mucin-5B
  • Polymyositis
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Cite this

Exploration of the MUC5B promoter variant and ILD risk in patients with autoimmune myositis. / Johnson, Cheilonda; Rosen, Paul; Lloyd, Thomas; Horton, Maureen; Christopher-Stine, Lisa; Oddis, Chester V.; Mammen, Andrew L.; Danoff, Sonye.

In: Respiratory Medicine, Vol. 130, 01.09.2017, p. 52-54.

Research output: Contribution to journalArticle

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