Abstract

• PS reduce plasma LDL-C levels by 6–12%. • LDL-C response to PS intake modulated by variants in cholesterol metabolism genes. • Only CYP7A1 c. −204C > A variant offered an hypocholesterolemic effect. • Standardization of clinical trials evaluating gene-diet interaction is necessary. Plant sterols and stanols (PS) are well known for their cholesterol-lowering effect by reducing intestinal absorption of cholesterol. However, genetic factors modulate the low-density lipoprotein cholesterol (LDL-C) response to PS therapy. This review examines clinical trials evaluating the impact of the main genes associated with response of plasma lipid concentrations to PS intake: APOE, CYP7A1, ABCG5/G8, NPC1L1, CETP, APOA4/A5, SCARBI, HMGCR, PPARα, LIPC, MTHFR and LPA. Evidence indicates that carriers of mutant allele of the CYP7A1 c. −204 A > C variant experience a greater plasma cholesterol reduction after PS intake, although there is discrepancy for the rest of genetic variants studied. Thus, it is necessary to standardize the design of these studies to validate the use of genetic information as a predictor marker of the response to the intervention with PS, to scientifically validate the use of these data in the personalized dietary advice.

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