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Muscle Nerve. 2011 Oct;44(4):531-8. doi: 10.1002/mus.22115. Epub 2011 Aug 8.

Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS.

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  • 1Department of Pediatrics, University at Buffalo, Buffalo, New York 14203, USA. isackson@buffalo.edu

Abstract

INTRODUCTION:

Of the nearly 38 million people in the USA who receive statin therapy, 0.1-0.5% experience severe or life-threatening myopathic side effects.

METHODS:

We performed a genome-wide association study (GWAS) in a group of patients with severe statin myopathy versus a statin-tolerant group to identify genetic susceptibility loci.

RESULTS:

Replication studies in independent groups of severe statin myopathy (n = 190) and statin-tolerant controls (n = 130) resulted in the identification of three single-nucleotide polymorphisms (SNPs), rs9342288, rs1337512, and rs3857532, in the eyes shut homolog (EYS) on chromosome 6 suggestive of an association with risk for severe statin myopathy (P = 0.0003-0.0008). Analysis of EYS cDNA demonstrated that EYS gene products are complex and expressed with relative abundance in the spinal cord as well as in the retina.

CONCLUSION:

Structural similarities of these EYS gene products to members of the Notch signaling pathway and to agrin suggest a possible functional role in the maintenance and regeneration of the structural integrity of skeletal muscle.

Copyright © 2011 Wiley Periodicals, Inc.

PMID:
21826682
[PubMed - indexed for MEDLINE]
PMCID:
PMC3175321
Free PMC Article
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