0
Diffuse Lung Disease |

MUC5B Promoter Variant Is Not Associated With Myositis-Related Interstitial Lung Disease

Cheilonda Johnson*, MD; Paul Rosen; Thomas Lloyd, MD; John McGready, PhD; Maureen Horton, MD; John Hall, PhD; Andrew Mammen, MD; Sonye Danoff, MD
Author and Funding Information

Johns Hopkins University School of Medicine, Baltimore, MD


Chest. 2012;142(4_MeetingAbstracts):422A. doi:10.1378/chest.1383687
Text Size: A A A
Published online

Abstract

SESSION TYPE: ILD - Bench to Bedside

PRESENTED ON: Wednesday, October 24, 2012 at 02:45 PM - 04:15 PM

PURPOSE: Interstitial lung disease (ILD) is common in patients with myositis but its pathogenesis is poorly understood. Identifying shared genetic risk factors could reveal pathobiologic overlap between myositis-related ILD and other forms of ILD. Familial interstitial pneumonia and sporadic idiopathic pulmonary fibrosis are associated with a specific single nucleotide polymorphism (SNP) in the promoter region of MUC5B (rs35705950). The association of this polymorphism with myositis-related ILD has not been described. We sought to determine the MUC5B minor allele frequency among ILD patients with and without associated myositis and the relationship between MUC5B variant expression and severity of illness at initial presentation.

METHODS: 129 participants with ILD were analyzed for a SNP (rs35705950) within the MUC5B promoter region using a TaqMan SNP genotyping assay. Sixty-seven had ILD without evidence of myositis (ILD); 62 had myositis-related ILD (myositis-ILD). A convenience sample of 27 patients with inclusion body myositis (IBM) without interstitial lung disease served as controls to establish the background minor allele frequency. The primary outcome measure was the MUC5B minor allele frequency in the two study populations (ILD vs. myositis-ILD). The secondary outcome measure was the difference in baseline mean forced vital capacity percent predicted (%FVC) between those with and without the MUC5B variant.

RESULTS: One hundred and nineteen patients (65 ILD, 54 myositis-ILD) were successfully genotyped. The MUC5B minor allele frequency was present in 28, 10, and 11% of the ILD, myositis-ILD, and IBM groups respectively (ILD vs. myositis-ILD p=0.004). The difference in baseline mean %FVC between those with and without the variant was 3.15% (95% CI [-4.49%, 10.78%]; p=0.415).

CONCLUSIONS: The MUC5B minor allele expression rate in non-myositis ILD is similar to published rates for patients with familial interstitial pneumonia and sporadic IPF. The MUC5B minor allele expression rate in myositis-ILD is consistent with published rates for control populations. MUC5B variant expression did not predict disease severity at initial presentation based on baseline %FVC.

CLINICAL IMPLICATIONS: The MUC5B promoter variant is not associated with the development of myositis-related ILD.

DISCLOSURE: The following authors have nothing to disclose: Cheilonda Johnson, Paul Rosen, Thomas Lloyd, John McGready, Maureen Horton, John Hall, Andrew Mammen, Sonye Danoff

No Product/Research Disclosure Information

Johns Hopkins University School of Medicine, Baltimore, MD

Sign In to Access Full Content

MEMBER & INDIVIDUAL SUBSCRIBER

Want Access?

NEW TO CHEST?

Become a CHEST member and receive a FREE subscription as a benefit of membership.

Individuals can purchase this article on ScienceDirect.

Individuals can purchase a subscription to the journal.

Individuals can purchase a subscription to the journal or buy individual articles.

Learn more about membership or Purchase a Full Subscription.

INSTITUTIONAL ACCESS

Institutional access is now available through ScienceDirect and can be purchased at myelsevier.com.

Sign In to Access Full Content

MEMBER & INDIVIDUAL SUBSCRIBER

Want Access?

NEW TO CHEST?

Become a CHEST member and receive a FREE subscription as a benefit of membership.

Individuals can purchase this article on ScienceDirect.

Individuals can purchase a subscription to the journal.

Individuals can purchase a subscription to the journal or buy individual articles.

Learn more about membership or Purchase a Full Subscription.

INSTITUTIONAL ACCESS

Institutional access is now available through ScienceDirect and can be purchased at myelsevier.com.

Figures

Tables

References

NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).

Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

MEMBER & INDIVIDUAL SUBSCRIBER

Want Access?

NEW TO CHEST?

Become a CHEST member and receive a FREE subscription as a benefit of membership.

Individuals can purchase this article on ScienceDirect.

Individuals can purchase a subscription to the journal.

Individuals can purchase a subscription to the journal or buy individual articles.

Learn more about membership or Purchase a Full Subscription.

INSTITUTIONAL ACCESS

Institutional access is now available through ScienceDirect and can be purchased at myelsevier.com.

Related Content

Customize your page view by dragging & repositioning the boxes below.

Find Similar Articles
CHEST Journal Articles
PubMed Articles
  • CHEST Journal
    Print ISSN: 0012-3692
    Online ISSN: 1931-3543