Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.

Marcos Palacio Rojas,Arturo Pérez,Paulo Marca Vicuña,Carlos Garicano,Santiago Maldonado Parra,Clímaco Cano,Joselyn Rojas,Rosanna D’Addosio,Carem Prieto,Edward Rojas,Natalia González Martínez,María Sofía Martínez,Juan Salazar,Valmore Bermúdez,Kyle Hoedebecke,Trina Núñez Nava

doi:10.12688/f1000research.12938.1

Abstract

The direct link between lipid metabolism alterations and the increase of cardiovascular risk are well documented. Dyslipidemias, including isolated high LDL-c or mixed dyslipidemia, such as those seen in diabetes (hypertriglyceridemia, high LDL-c or low HDL-c), correlate with a significant risk of cardiovascular and cerebrovascular disease worldwide. This review analyzes the current knowledge concerning the genetic basis of lipid metabolism alterations, emphasizing lipoprotein lipase gene mutations and the HindIII polymorphism, which are associated with decreased levels of triglycerides and LDL-c, as well as higher levels of HDL-c. These patterns would be associated with decreased global morbidity and mortality, providing protection against cardiovascular and cerebrovascular diseases.

Highlights

The direct link between lipid metabolism alterations and the increase of cardiovascular risk are well documented
High TC, TAG and LDL-C, as well as decreased serum HDL-C, are frequently associated with low physical activity and poor eating habits, but there is a large number of mutations and single nucleotide polymorphism related to a specific protein dysfunction within major lipoprotein metabolism pathways like CETP, ApoA, lecithin cholesterol acyl transferase (LCAT), LDL receptor, Apo B-100 and lipoprotein lipase (LPL)
There are no studies in Venezuela that allows us to know the true prevalence of the HindIII polymorphism, nor to corroborate the association with changes in the lipid profile or an increased risk for cardiovascular diseases, so we suggest performing a national populational genetic study in search for this lipidic disorders with the aim to has a better understanding of the cardiovascular risk factors in Latin America

Summary

Conclusions

High TC, TAG and LDL-C, as well as decreased serum HDL-C, are frequently associated with low physical activity and poor eating habits, but there is a large number of mutations and single nucleotide polymorphism related to a specific protein dysfunction within major lipoprotein metabolism pathways like CETP, ApoA, LCAT, LDL receptor, Apo B-100 and LPL. In this regard, the LPL gene HindIII polymorphism (rare allele H-) poses a protective function through its role in producing an improved lipid profile (low TG and LDL-c and high HDL-c). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

18. Miller M

55. Eckel RH

Findings

Galton DJ