Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F16%3A00060019" target="_blank" >RIV/00023001:_____/16:00060019 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/16:10327923 RIV/00064165:_____/16:10327923

Result on the web

<a href="http://www.futuremedicine.com/doi/pdf/10.2217/pgs-2016-0071" target="_blank" >http://www.futuremedicine.com/doi/pdf/10.2217/pgs-2016-0071</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.2217/pgs-2016-0071" target="_blank" >10.2217/pgs-2016-0071</a>

Result language

angličtina

Original language name

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

Original language description

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.

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

—

Project

<a href="/en/project/NT14025" target="_blank" >NT14025: Role of rare variants in genetic predisposition to statin myopathy</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Pharmacogenomics

ISSN

1462-2416

e-ISSN

—

Volume of the periodical

17

Issue of the periodical within the volume

13

Country of publishing house

GB - UNITED KINGDOM

Number of pages

10

Pages from-to

1405-1414

UT code for WoS article

000382319300004

EID of the result in the Scopus database

—