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Novel protein-truncating variant in the APOB gene may protect from coronary artery disease and adverse cardiovascular events

Novel protein-truncating variant in the APOB gene may protect from coronary artery disease and adverse cardiovascular events

Source : https://www.sciencedirect.com/science/article/pii/S2667089522000189?via=ihub

Genetic testing is still underused for the diagnosis of dyslipidemia. * Among subjects with very low LDL levels, a novel APOB truncating variant was found. * ApoB-51 seems protective against CAD risk with no major harmful effects. * APOB variants partially blocking ApoB production may reduce cardiovascular risk.



Conclusions: Our data support the use of targeted NGS in well-characterized clinical settings, as well as they indicate that.a partial block of ApoB production may be well tolerated and improve cardiovascular outcomes.