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Rare variants in known and novel candidate genes predisposing to statin-associated myopathy
M. Neřoldová, V. Stránecký, K. Hodaňová, H. Hartmannová, L. Piherová, A. Přistoupilová, L. Mrázová, M. Vrablík, V. Adámková, JA. Hubáček, M. Jirsa, S. Kmoch,
Language English Country England, Great Britain
Document type Journal Article
Grant support
NT14025
MZ0
CEP Register
NLK
PubMed Central
from 2015 to 1 year ago
ProQuest Central
from 2000-02-01 to 2020-12-31
Health & Medicine (ProQuest)
from 2000-02-01 to 2020-12-31
PubMed
27296017
DOI
10.2217/pgs-2016-0071
Knihovny.cz E-resources
- MeSH
- Genome-Wide Association Study MeSH
- Chloride Channels genetics MeSH
- Adult MeSH
- Exome genetics MeSH
- Genetic Variation MeSH
- Genotype MeSH
- Middle Aged MeSH
- Humans MeSH
- Muscular Diseases chemically induced epidemiology genetics MeSH
- Liver-Specific Organic Anion Transporter 1 genetics MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Hydroxymethylglutaryl-CoA Reductase Inhibitors adverse effects MeSH
- Rare Diseases genetics MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
AIM: Genetic variants affecting statin uptake, metabolism or predisposing to muscular diseases may confer susceptibility to statin-induced myopathy. Besides the SLCO1B1 rs4149056 genotype, common genetic variants do not seem to determine statin-associated myopathy. Here we aimed to address the potential role of rare variants. METHODS: We performed whole exome sequencing in 88 individuals suffering from statin-associated myopathy and assessed the burden of rare variants using candidate-gene and exome-wide association analysis. RESULTS: In the novel candidate gene CLCN1, we identified a heterozygote truncating mutation p.R894* in four patients. In addition, we detected predictably pathogenic case-specific variants in MYOT, CYP3A5, SH3TC2, FBXO32 and RBM20. CONCLUSION: These findings support the role of rare variants and nominate loci for follow-up studies.
References provided by Crossref.org
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- $a AIM: Genetic variants affecting statin uptake, metabolism or predisposing to muscular diseases may confer susceptibility to statin-induced myopathy. Besides the SLCO1B1 rs4149056 genotype, common genetic variants do not seem to determine statin-associated myopathy. Here we aimed to address the potential role of rare variants. METHODS: We performed whole exome sequencing in 88 individuals suffering from statin-associated myopathy and assessed the burden of rare variants using candidate-gene and exome-wide association analysis. RESULTS: In the novel candidate gene CLCN1, we identified a heterozygote truncating mutation p.R894* in four patients. In addition, we detected predictably pathogenic case-specific variants in MYOT, CYP3A5, SH3TC2, FBXO32 and RBM20. CONCLUSION: These findings support the role of rare variants and nominate loci for follow-up studies.
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