Analysis of HDL-microRNA panel in heterozygous familial hypercholesterolemia subjects with LDL receptor null or defective mutation

• Published in: Scientific reports Vol. 9; no. 1; pp. 20354 - 9
• Main Authors: Scicali, Roberto, Di Pino, Antonino, Pavanello, Chiara, Ossoli, Alice, Strazzella, Arianna, Alberti, Antonia, Di Mauro, Stefania, Scamporrino, Alessandra, Urbano, Francesca, Filippello, Agnese, Piro, Salvatore, Rabuazzo, Agata Maria, Calabresi, Laura, Purrello, Francesco
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 30.12.2019; Nature Publishing Group
• Subjects: 692/163/2743/2099; 692/53/2423; 82; 82/83; Adult; Biomarkers; Cardiovascular diseases; Female; Genotypes; Health risks; Heterozygote; High density lipoprotein; Humanities and Social Sciences; Humans; Hypercholesterolemia; Hyperlipoproteinemia Type II - genetics; Hyperlipoproteinemia Type II - metabolism; Lipids - blood; Lipoproteins, HDL - genetics; Low density lipoprotein; Low density lipoprotein receptors; Male; MicroRNAs; MicroRNAs - genetics; Middle Aged; miRNA; multidisciplinary; Mutation; Phenotypes; Population studies; Receptors, LDL - genetics; Science; Science (multidisciplinary); Wave velocity
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-019-56857-2

In the last years increasing attention has been given to the connection between genotype/phenotype and cardiovascular events in subjects with familial hypercholesterolemia (FH). MicroRNAs (miRs) bound to high-density lipoprotein (HDL) may contribute to better discriminate the cardiovascular risk of FH subjects. Our aim was to evaluate the HDL-miR panel in heterozygous FH (HeFH) patients with an LDLR null or defective mutation and its association with pulse wave velocity (PWV). We evaluated lipid panel, HDL-miR panel and PWV in 32 LDLR null mutation (LDLR-null group) and 35 LDLR defective variant (LDLR-defective group) HeFH patients. HDL-miR-486 and HDL-miR-92a levels were more expressed in the LDLR-null group than the LDLR-defective group. When we further stratified the study population into three groups according to both the LDLR genotype and history of ASCVD (LDLR-null/not-ASCVD, LDLR-defective/not-ASCVD and LDLR/ASCVD groups), both the LDLR/ASCVD and the LDLR-null/not-ASCVD groups had a higher expression of HDL-miR-486 and HDL-miR-92a than the LDLR-defective/not-ASCVD group. Finally, HDL-miR-486 and HDL-miR-92a were independently associated with PWV. In conclusion, the LDLR-null group exhibited HDL-miR-486 and HDL-miR-92a levels more expressed than the LDLR-defective group. Further studies are needed to evaluate these HDL-miRs as predictive biomarkers of cardiovascular events in FH.