Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

Scientific Reports
Cameron J LaceyMartin A Kennedy

Abstract

The pathophysiology of stress cardiomyopathy (SCM), also known as takotsubo syndrome, is poorly understood. SCM usually occurs sporadically, often in association with a stressful event, but clusters of cases are reported after major natural disasters. There is some evidence that this is a familial condition. We have examined three possible models for an underlying genetic predisposition to SCM. Our primary study cohort consists of 28 women who suffered SCM as a result of two devastating earthquakes that struck the city of Christchurch, New Zealand, in 2010 and 2011. To seek possible underlying genetic factors we carried out exome analysis, genotyping array analysis, and array comparative genomic hybridization on these subjects. The most striking finding was the observation of a markedly elevated rate of rare, heterogeneous copy number variants (CNV) of uncertain clinical significance (in 12/28 subjects). Several of these CNVs impacted on genes of cardiac relevance including RBFOX1, GPC5, KCNRG, CHODL, and GPBP1L1. There is no physical overlap between the CNVs, and the genes they impact do not appear to be functionally related. The recognition that SCM predisposition may be associated with a high rate of rare CNVs offers a novel...Continue Reading

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Citations

Oct 23, 2018·Molecular Genetics & Genomic Medicine·R J McKinlay GardnerJonathan R Skinner
Mar 25, 2020·Herz·L Christian Napp, Johann Bauersachs

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Methods Mentioned

BETA
exome sequencing
exome
genotyping
hormone replacement therapy
chip
chips

Software Mentioned

GATK
Burrows
Galaxy
HaplotypeCaller
SeattleSeq
SnpEff
EqSCM
- Aligner ( BWA ) GATK
Ingenuity Variant Analysis ( IVA )
MetaboChip

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