New Developments in the Genetics of Inclusion Body Myositis

  • Kyla A. Britson
  • Stephanie Y. Yang
  • Thomas E. Lloyd
Inflammatory Muscle Disease (I Lundberg, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Inflammatory Muscle Disease


Purpose of Review

Our goal is to review the recent literature pertaining to the genetics of sporadic inclusion body myositis (IBM).

Recent Findings

In a study of 252 IBM patients, the class II MHC allele HLA-DRB1*03:01 showed the most significant association with IBM, and that risk could be largely attributed to amino acids within the peptide-binding pocket. Candidate gene sequencing identified rare missense variants in proteins regulating protein homeostasis including VCP and SQSTM1. An unbiased approach employing exome sequencing of genes encoding rimmed vacuole proteins identified FYCO1 variants in IBM. Ongoing GWAS approaches may shed new light on genetic risk factors for IBM.


Many variants have been reported at an increased frequency in IBM in small studies; however, only HLA association has shown genome-wide significance. Future studies are needed to validate variants in larger cohorts and to understand the molecular roles these risk factors play in IBM.


Inclusion body myositis HLA VCP SQSTM1 FYCO1 Follistatin 


Compliance With Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Human and Animal Rights Statement

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Kyla A. Britson
    • 1
    • 2
  • Stephanie Y. Yang
    • 1
    • 3
  • Thomas E. Lloyd
    • 1
  1. 1.Departments of Neurology and NeuroscienceJohns Hopkins University School of MedicineBaltimoreUSA
  2. 2.Graduate program in Cellular and Molecular MedicineJohns Hopkins University School of MedicineBaltimoreUSA
  3. 3.Graduate program in Human GeneticsJohns Hopkins University School of MedicineBaltimoreUSA

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