Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F16%3A00060189" target="_blank" >RIV/00023001:_____/16:00060189 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/16:10333575 RIV/00064165:_____/16:10333575

Result on the web

<a href="http://www.biomed.cas.cz/physiolres/pdf/65/65_1005.pdf" target="_blank" >http://www.biomed.cas.cz/physiolres/pdf/65/65_1005.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci

Original language description

Some patients are susceptible to statin-associated myopathy (SAM) either because of genetic variations affecting statin uptake and metabolism, or because they predispose their carriers to muscular diseases. Among the frequent variants examined using the genome-wide association study approach, SLCO1B1 c.521T>C represents the only validated predictor of SAM in patients treated with high-dose simvastatin. Our aim was to ascertain the overall contribution of large copy-number variations (CNVs) to SAM diagnosed in 86 patients. CNVs were detected by whole genome genotyping using Illumina HumanOmni2.5 Exome BeadChips. Exome sequence data were used for validation of CNVs in SAM-related loci. In addition, we performed a specific search for CNVs in the SLCO1B region detected recently in Rotor syndrome subjects. Rare deletions possibly contributing to genetic predisposition to SAM were found in two patients: one removed EYS associated previously with SAM, the other was present in LARGE associated with congenital muscular dystrophy. Another two patients carried deletions in CYP2C19, which may predispose to clopidogrel-statin interactions. We found no common large CNVs potentially associated with SAM and no CNVs in the SLCO1B locus. Our findings suggest that large CNVs do not play a substantial role in the etiology of SAM.

Czech name

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Czech description

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Type

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

CEP classification

FA - Cardiovascular diseases including cardio-surgery

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2016

Confidentiality

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

Name of the periodical

Physiological research

ISSN

0862-8408

e-ISSN

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Volume of the periodical

65

Issue of the periodical within the volume

6

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

7

Pages from-to

1005-1011

UT code for WoS article

000391198200012

EID of the result in the Scopus database

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