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RESEARCH PRODUCT
Hyperalphalipoproteinemia and Beyond: The Role of HDL in Cardiovascular Diseases
Emilio NardiMaurizio AvernaDavide NotoMarcello CiaccioAngelo B. CefalùCarlo M. BarbagalloAntonina GiammancoRosalia Caldarellasubject
0301 basic medicineEndothelial lipasemedicine.medical_specialtyApolipoprotein BHDLSciencePopulationGenome-wide association studyReview030204 cardiovascular system & hematologyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicinecardiovascular diseaseInternal medicineCholesterylester transfer proteinMendelian randomizationCETPMedicineScavenger receptoreducationEcology Evolution Behavior and Systematicseducation.field_of_studybiologybusiness.industryQPaleontology030104 developmental biologyEndocrinologySpace and Planetary Sciencebiology.proteinlipids (amino acids peptides and proteins)Hepatic lipasehyperalphalipoproteinemiabusinesspolymorphismsdescription
Hyperalphalipoproteinemia (HALP) is a lipid disorder characterized by elevated plasma high-density lipoprotein cholesterol (HDL-C) levels above the 90th percentile of the distribution of HDL-C values in the general population. Secondary non-genetic factors such as drugs, pregnancy, alcohol intake, and liver diseases might induce HDL increases. Primary forms of HALP are caused by mutations in the genes coding for cholesteryl ester transfer protein (CETP), hepatic lipase (HL), apolipoprotein C-III (apo C-III), scavenger receptor class B type I (SR-BI) and endothelial lipase (EL). However, in the last decades, genome-wide association studies (GWAS) have also suggested a polygenic inheritance of hyperalphalipoproteinemia. Epidemiological studies have suggested that HDL-C is inversely correlated with cardiovascular (CV) risk, but recent Mendelian randomization data have shown a lack of atheroprotective causal effects of HDL-C. This review will focus on primary forms of HALP, the role of polygenic inheritance on HDL-C, associated risk for cardiovascular diseases and possible treatment options.
year | journal | country | edition | language |
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2021-06-01 |