Rare variants in known and novel candidate genes predisposing to statin-associated myopathy
| العنوان: | Rare variants in known and novel candidate genes predisposing to statin-associated myopathy |
|---|---|
| المؤلفون: | Věra Adámková, Stanislav Kmoch, Michal Vrablík, Anna Přistoupilová, M. Neřoldová, Milan Jirsa, Jaroslav A. Hubacek, Lenka Mrázová, Lenka Piherová, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová |
| المصدر: | Pharmacogenomics. 17:1405-1414 |
| بيانات النشر: | Future Medicine Ltd, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Candidate gene, Genotype, Bioinformatics, 03 medical and health sciences, Rare Diseases, Muscular Diseases, Chloride Channels, SH3TC2, Genetics, medicine, Humans, Exome, Myopathy, Exome sequencing, Aged, Genetic association, Aged, 80 and over, Pharmacology, biology, Liver-Specific Organic Anion Transporter 1, Genetic Variation, Heterozygote advantage, Middle Aged, 030104 developmental biology, biology.protein, Molecular Medicine, Female, Hydroxymethylglutaryl-CoA Reductase Inhibitors, medicine.symptom, SLCO1B1, Genome-Wide Association Study |
| الوصف: | 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. |
| تدمد: | 1744-8042 1462-2416 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84163989e2a7498cc8bcbd166c5ae523Test https://doi.org/10.2217/pgs-2016-0071Test |
| رقم الانضمام: | edsair.doi.dedup.....84163989e2a7498cc8bcbd166c5ae523 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17448042 14622416 |
|---|