Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort

Atherosclerosis Plus(2022)

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Abstract
•Pathogenic variants are not detected in ∼60% of FH individuals, and part of these cases may have a polygenic cause.•Patients without a monogenic cause of FH may present a specific combination of SNPs that, together, elevate the LDL-C levels.•This is the first study that shows the applicability of a dyslipidemia PRS in Latin American populations.•Subjects with FH without a causal genetic variant had a higher mean PRS compared to FH mutation-positive and control groups.•Despite not predicting CVD events, the PRS is a risk predictor of preclinical atherosclerosis in the general population.
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Key words
Polygenic risk score,Familial hypercholesterolemia,Genetics,Lipid disorder,Atherosclerosis
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