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Genetic basis of hypertriglyceridemies.

Beatriz Candás-Estébanez1, Ariadna Padró-Miquel2, Virginia Esteve-Luque2

  • 1Laboratorio Clínico, Hospital de Barcelona, IDIBELL, Hospital Universitari de Bellvitge, Barcelona, España; Laboratorio Clínico, Hospital Universitari de Bellvitge, IDIBELL, Barcelona, España.

Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis
|May 19, 2021
PubMed
Summary

Hypertriglyceridaemia (HTG), a common triglyceride metabolism disorder, is now classified into monogenic and polygenic forms using advanced genetic tools. Understanding HTG genetics aids in developing targeted treatments beyond strict diets.

Keywords:
HiperquilomicronemiaHipertrigliceridemiaHyperchylomycronemiaHypertrygliceridemiaMonogenicMonogénicaPoligénicaPolygenic

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Area of Science:

  • Biochemistry
  • Genetics
  • Clinical Medicine

Background:

  • Hypertriglyceridaemia (HTG) affects 15-20% of the global population, often identified incidentally.
  • Triglyceride (TG) metabolism disorders possess a complex genetic etiology.
  • Current understanding necessitates a refined approach to HTG diagnosis and management.

Purpose of the Study:

  • To redefine and classify HTG based on genetic findings.
  • To explore the role of gene-environment interactions in HTG.
  • To identify novel therapeutic targets for triglyceride metabolism disorders.

Main Methods:

  • Utilizing advanced genetic tools for precise classification of HTG.
  • Analyzing complex gene-environment interactions, including adiposity as a trigger.
  • Reviewing existing studies on TG concentrations and cardiovascular risk.

Main Results:

  • HTG is now classified into monogenic (TG>10 mmol/L) and polygenic (2 mmol/L
  • Genetic factors and gene-environment interactions significantly influence HTG.
  • Genetic insights are guiding the development of new pharmacological treatments.

Conclusions:

  • Accurate genetic diagnosis is crucial for tailoring HTG treatment strategies.
  • Understanding HTG pathophysiology informs risk stratification for cardiovascular disease.
  • Novel treatments may offer alternatives to restrictive dietary interventions for HTG.