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01-08-2013 | Original Article

Genetic polymorphisms associated with exertional rhabdomyolysis

Authors: Patricia A. Deuster, Carmen L. Contreras-Sesvold, Francis G. O’Connor, William W. Campbell, Kimbra Kenney, John F. Capacchione, Mark E. Landau, Sheila M. Muldoon, Elisabeth J. Rushing, Yuval Heled

Published in: European Journal of Applied Physiology | Issue 8/2013

Abstract

Exertional rhabdomyolysis (ER) occurs in young, otherwise healthy, individuals principally during strenuous exercise, athletic, and military training. Although many risk factors have been offered, it is unclear why some individuals develop ER when participating in comparable levels of physical exertion under identical environmental conditions and others do not. This study investigated possible genetic polymorphisms that might help explain ER. DNA samples derived from a laboratory-based study of persons who had never experienced an episode of ER (controls) and clinical ER cases referred for testing over the past several years were analyzed for single nucleotide polymorphisms (SNPs) in candidate genes. These included angiotensin I converting enzyme (ACE), α-actinin-3 (ACTN3), creatine kinase muscle isoform (CKMM), heat shock protein A1B (HSPA1B), interleukin 6 (IL6), myosin light chain kinase (MYLK), adenosine monophosphate deaminase 1 (AMPD1), and sickle cell trait (HbS). Population included 134 controls and 47 ER cases. The majority of ER cases were men (n = 42/47, 89.4 %); the five women with ER were Caucasian. Eighteen African Americans (56.3 %) were ER cases. Three SNPs were associated with ER: CKMM Ncol, ACTN3 R577X, and MYLK C37885A. ER cases were 3.1 times more likely to have the GG genotype of CKMM (odds ratio/OR = 3.1, confidence interval/CI 1.33–7.10), 3.0 times for the XX genotype of ACTN3 SNP (OR = 2.97, CI 1.30–3.37), and 5.7 times for an A allele of MYLK (OR = 21.35, CI 2.60–12.30). All persons with HbS were also ER cases. Three distinct polymorphisms were associated with ER. Further work will be required to replicate these findings and determine the mechanism(s) whereby these variants might confer susceptibility.

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Title: Genetic polymorphisms associated with exertional rhabdomyolysis
Authors: Patricia A. Deuster
Carmen L. Contreras-Sesvold
Francis G. O’Connor
William W. Campbell
Kimbra Kenney
John F. Capacchione
Mark E. Landau
Sheila M. Muldoon
Elisabeth J. Rushing
Yuval Heled
Publication date: 01-08-2013
Publisher: Springer Berlin Heidelberg
Published in: European Journal of Applied Physiology / Issue 8/2013
Print ISSN: 1439-6319
Electronic ISSN: 1439-6327
DOI: https://doi.org/10.1007/s00421-013-2622-y

At a glance: The STEP trials

Springer Medicine

Genetic polymorphisms associated with exertional rhabdomyolysis

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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