Impact of Polygenic Risk Scores on the Clinical Presentation and Glycaemic Variability of GCK-MODY
Posted inDiabetes & Endocrinology Internal Medicine news

Impact of Polygenic Risk Scores on the Clinical Presentation and Glycaemic Variability of GCK-MODY

This article explores how polygenic background modifies GCK-MODY clinical phenotypes, influencing HbA1c levels and diagnostic thresholds. Findings highlight the distinct polygenic patterns in GCK-MODY compared to HNF1A-MODY, emphasizing the interaction between monogenic and polygenic factors in diabetes.
Angiographic Burden of Coronary Atherosclerosis: The Critical Mediator Between ASCVD Risk Factors and Cardiovascular Outcomes
Posted inCardiology Internal Medicine news

Angiographic Burden of Coronary Atherosclerosis: The Critical Mediator Between ASCVD Risk Factors and Cardiovascular Outcomes

This Mendelian randomization study reveals that coronary plaque burden significantly mediates the link between traditional risk factors and adverse events like myocardial infarction and heart failure, reinforcing the necessity of early primary prevention to intercept atherosclerosis development.
Shared Genetic Vulnerability: Polygenic and Monogenic Contributions to Peripartum, Alcohol-Induced, and Cancer Therapy–Related Cardiomyopathies
Posted inCardiology news

Shared Genetic Vulnerability: Polygenic and Monogenic Contributions to Peripartum, Alcohol-Induced, and Cancer Therapy–Related Cardiomyopathies

A large multi-cohort genetic analysis shows that both rare monogenic variants and a high polygenic score for dilated cardiomyopathy (DCM) are enriched in peripartum, alcohol-induced, and cancer therapy–related cardiomyopathies, supporting a shared genetic susceptibility unmasked by diverse environmental stressors.
Common, Rare and Somatic Genetic Drivers Together Double 5‑Year Atrial Fibrillation Risk: Toward an Integrated Genomic Model (IGM‑AF)
Posted inCardiology news Pathology & Lab Medicine

Common, Rare and Somatic Genetic Drivers Together Double 5‑Year Atrial Fibrillation Risk: Toward an Integrated Genomic Model (IGM‑AF)

A UK Biobank whole‑genome study finds polygenic, rare monogenic, and somatic (CHIP) variants each independently associate with incident atrial fibrillation (AF); combined genomic profiling plus clinical risk (CHARGE‑AF) improves discrimination (C=0.80) and reclassification.
Guideline‑Level Moderate–Vigorous Physical Activity Appears Safe and Beneficial for Phenotype‑Negative Car cardiomyopathy Variant Carriers
Posted inCardiology news

Guideline‑Level Moderate–Vigorous Physical Activity Appears Safe and Beneficial for Phenotype‑Negative Car cardiomyopathy Variant Carriers

In a large UK Biobank cohort, accelerometer-measured moderate‑to‑vigorous physical activity (100–400 min/week) was associated with lower cardiovascular risk and no excess arrhythmic or cardiomyopathy onset among genotype‑positive phenotype‑negative (G+P-) cardiomyopathy variant carriers.