| Title |
New Developments in the Genetics of Inclusion Body Myositis
|
|---|---|
| Published in |
Current Rheumatology Reports, April 2018
|
| DOI | 10.1007/s11926-018-0738-0 |
| Pubmed ID | |
| Authors |
Kyla A. Britson, Stephanie Y. Yang, Thomas E. Lloyd |
| Abstract |
Our goal is to review the recent literature pertaining to the genetics of sporadic inclusion body myositis (IBM). 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. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 23 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 5 | 22% |
| Other | 4 | 17% |
| Student > Postgraduate | 2 | 9% |
| Researcher | 2 | 9% |
| Student > Doctoral Student | 1 | 4% |
| Other | 4 | 17% |
| Unknown | 5 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Neuroscience | 7 | 30% |
| Medicine and Dentistry | 6 | 26% |
| Psychology | 2 | 9% |
| Agricultural and Biological Sciences | 2 | 9% |
| Immunology and Microbiology | 1 | 4% |
| Other | 0 | 0% |
| Unknown | 5 | 22% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 April 2018.
All research outputs
#20,474,896
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Outputs from Current Rheumatology Reports
#648
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#290,422
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Outputs of similar age from Current Rheumatology Reports
#24
of 27 outputs
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