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Importance: Disease characteristics of genetically mediated coronary artery disease (CAD) on coronary angiography and the association of genomic risk with outcomes after coronary angiography are not well understood.

Objective: To assess the angiographic characteristics and risk of post-coronary angiography outcomes of patients with genomic drivers of CAD: familial hypercholesterolemia (FH), high polygenic risk score (PRS), and clonal hematopoiesis of indeterminate potential (CHIP).

Design, Setting, And Participants: A retrospective cohort study of 3518 Mass General Brigham Biobank participants with genomic information who underwent coronary angiography was conducted between July 18, 2000, and August 1, 2023.

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Application of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population.

Gac Med Mex

January 2025

Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.

Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.

Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.

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Cardiovascular disease is the main cause of mortality in Mexico as well as the rest of the world, with dyslipidemia being one of the main risk factors. Despite the importance of its epidemiological impact, there is still -among primary care physicians- a lack of knowledge ranging from the basic concepts for diagnosis to the most recent recommendations for treatment. This document consisting of 10 questions is done by experts in this field.

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Prevalence of Lp(a) in a real-world Portuguese cohort: implications for cardiovascular risk assessment.

Lipids Health Dis

January 2025

Department of Endocrinology, Diabetes and Metabolism, Local Health Unit of Santo António, Largo Professor Abel Salazar, Porto, 4099-001, Portugal.

Background: Cardiovascular disease (CVD) is a major cause of mortality worldwide, necessitating more refined strategies for risk assessment. Recently, lipoprotein(a) [Lp(a)] has gained attention for its distinctive role in atherosclerosis, yet its prevalence and impact for cardiovascular risk assessment are not well-documented in the Portuguese population. This study aimed to characterize Lp(a) levels in a real-world Portuguese cohort, investigating its prevalence and association with CVD risk.

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Objectives: Aneurysmal subarachnoid haemorrhage (ASAH) is a severe stroke type, preventable by screening for intracranial aneurysms followed by treatment in high-risk individuals. We aimed to develop and validate a risk prediction model for ASAH in the general population to identify high-risk individuals.

Design: We used the population-based prospective cohort studies of the United Kingdom (UK) Biobank for model development and the Trøndelag Health (HUNT) Study for model validation.

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