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Review
. 2022 Apr 1;29(2):95-100.
doi: 10.1097/MED.0000000000000708.

Polygenic risk scores for the diagnosis and management of dyslipidemia

Liam R Brunham  1   2   3 , Mark Trinder  1
Affiliations
Review

Polygenic risk scores for the diagnosis and management of dyslipidemia

Liam R Brunham et al. Curr Opin Endocrinol Diabetes Obes. .

Abstract

Purpose of review: To review current progress in the use of polygenic risk scores for lipid traits and their use in the diagnosis and treatment of lipid disorders.

Recent findings: Inherited lipid disorders, including those causing extremes of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, or triglycerides were initially identified as monogenic traits, in which a single rare variant with large effect size is responsible for the phenotype. More recently, a polygenic basis for many lipid traits has also been identified. Patients with polygenic dyslipidemia can be identified through the use of polygenic risk scores (PRSs), which collapse information from a handful to several million genetic variants into a single metric.

Summary: PRSs for lipid traits may aid in the identification of the genetic basis for the lipid phenotype in individual patients, may provide additional information regarding the risk of cardiovascular disease, and could help in guiding therapeutic decision making.

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References

    1. Hegele RA. Plasma lipoproteins: genetic influences and clinical implications. Nat Rev Genet 2009; 10:109–121.
    1. Willer CJ, Sanna S, Jackson AU, et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 2008; 40:161–169.
    1. Kathiresan S, Melander O, Guiducci C, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet 2008; 40:189–197.
    1. Teslovich TM, Musunuru K, Smith AV, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466:707–713.
    1. Willer CJ, Schmidt EM, Sengupta S, et al. Discovery and refinement of loci associated with lipid levels. Nat Genet 2013; 45:1274–1283.

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