Key result
ANKRD1 missense mutations were identified in 5 of 231 dilated cardiomyopathy cases (~2%) and absent in 400 controls, establishing ANKRD1 as a new gene associated with the disease.
Why the study?
Are mutations in the ANKRD1 gene responsible for human dilated cardiomyopathy?
Population
231 independent cases of dilated cardiomyopathy and 400 controls; functional analysis performed in rat…
Comparison
Sequencing of the coding region of the ANKRD1 gene vs 400 controls without DCM
Design
Case-control
Authors
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ANKRD1 variants may expand genetic testing panels for dilated cardiomyopathy; leaves open confirmation of causality before clinical adoption.
Case-Control (n=631)
Are mutations in the ANKRD1 gene responsible for human dilated cardiomyopathy?
Absolute Event Rate: 2.16% vs 0%
Mutations in the ANKRD1 gene encoding CARP represent a novel genetic cause of dilated cardiomyopathy, accounting for approximately 2% of cases.
Duboscq-Bidot et al. (2009) conducted a case-control in Dilated cardiomyopathy (n=631). ANKRD1 gene mutations vs. No ANKRD1 mutations (controls) was evaluated on Identification of ANKRD1 missense mutations. ANKRD1 missense mutations were identified in 5 of 231 dilated cardiomyopathy cases (~2%) and absent in 400 controls, establishing ANKRD1 as a new gene associated with the disease.
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