Abstract
Background and purpose: The aim was to identify potential genetic risk factors associated with sporadic inclusion body myositis (sIBM). Methods: An association based caseâcontrol approach was utilized on whole exome sequencing data of 30 Finnish sIBM patients and a control cohort (n = 193). A separate Italian cohort of sIBM patients (n = 12) was used for evaluation of the results. Results: Seven single nucleotide polymorphisms were identified in five genes that have a considerably higher observed frequency in Finnish sIBM patients compared to the control population, and the previous association of the genetic human leukocyte antigen region was confirmed. Conclusions: All seven identified variants could individually or in combination increase the susceptibility for sIBM.
Lingua originale | English |
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pagine (da-a) | 572-577 |
Numero di pagine | 6 |
Rivista | European Journal of Neurology |
Volume | 24 |
DOI | |
Stato di pubblicazione | Pubblicato - 2017 |
Keywords
- Aged
- Alleles
- Case-Control Studies
- Cohort Studies
- Exome
- Female
- Gene Frequency
- Genetic Association Studies
- Genetic Loci
- Genetic Predisposition to Disease
- HLA
- Humans
- Male
- Middle Aged
- Myositis, Inclusion Body
- Neurology
- Neurology (clinical)
- Polymorphism, Single Nucleotide
- Risk
- Whole Exome Sequencing
- association study
- caseâcontrol study
- genetic risk factors
- risk loci
- sphingolipids
- sporadic inclusion body myositis
- whole exome sequencing