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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,
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
Grantová podpora
NT14025
MZ0
CEP - Centrální evidence projektů
NLK
PubMed Central
od 2015 do Před 1 rokem
ProQuest Central
od 2000-02-01 do 2020-12-31
Health & Medicine (ProQuest)
od 2000-02-01 do 2020-12-31
PubMed
27296017
DOI
10.2217/pgs-2016-0071
Knihovny.cz E-zdroje
- MeSH
- celogenomová asociační studie MeSH
- chloridové kanály genetika MeSH
- dospělí MeSH
- exom genetika MeSH
- genetická variace MeSH
- genotyp MeSH
- lidé středního věku MeSH
- lidé MeSH
- nemoci svalů chemicky indukované epidemiologie genetika MeSH
- polypeptid C přenášející organické anionty genetika MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- statiny škodlivé účinky MeSH
- vzácné nemoci genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články 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.
Citace poskytuje 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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