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Genetic penetrance

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Genetic Tug-of-War: How Polygenic Background Dictates the Penetrance and Phenotype of Monogenic Cardiomyopathies
Posted inCardiology Internal Medicine news

Genetic Tug-of-War: How Polygenic Background Dictates the Penetrance and Phenotype of Monogenic Cardiomyopathies

Posted by By MedXY 12/23/2025
A large-scale study from the Penn Medicine BioBank demonstrates that polygenic risk scores for hypertrophic and dilated cardiomyopathies act as bidirectional modifiers, influencing the clinical expression of rare pathogenic variants and offering a new paradigm for cardiovascular risk stratification.
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Sex-Specific Genetic Insights into Dilated Cardiomyopathy: The Key Role of Desmoplakin Variants
Posted inCardiology Specialties

Sex-Specific Genetic Insights into Dilated Cardiomyopathy: The Key Role of Desmoplakin Variants

Posted by By MedXY 08/22/2025
Desmoplakin gene variants confer a higher risk and penetrance of dilated cardiomyopathy in females, contrasting with male-predominant risks from other genes like TTN. This discovery underscores sex-specific mechanisms in DCM susceptibility and prognosis.
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