Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
Pharmacogenomics
; 17(13): 1405-14, 2016 08.
Article
en En
| MEDLINE
| ID: mdl-27296017
ABSTRACT
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Inhibidores de Hidroximetilglutaril-CoA Reductasas
/
Enfermedades Musculares
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Pharmacogenomics
Asunto de la revista:
FARMACOLOGIA
/
GENETICA MEDICA
Año:
2016
Tipo del documento:
Article
País de afiliación:
República Checa