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Genetic Architecture of Familial Hypercholesterolaemia

Mahtab Sharifi1,2, Marta Futema1, Devaki Nair2

  • 1Institute of Cardiovascular Science, University College London, 5 University St, London, WC1E 6JF, UK.

Current Cardiology Reports
|April 14, 2017
PubMed

Insights

Familial hypercholesterolaemia (FH) is an inherited cholesterol disorder. Genetic factors influence its cardiovascular risks and management, with new sequencing methods improving understanding.

Area of Science:

  • Genetics
  • Cardiology
  • Biochemistry

Background:

  • Familial hypercholesterolaemia (FH) is an inherited disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth.
  • It significantly increases the risk of premature coronary heart disease.
  • Understanding the genetic basis is crucial for diagnosis and management.

Purpose of the Study:

  • To review the genetic underpinnings of Familial hypercholesterolaemia.
  • To explore the impact of genetic factors on the clinical presentation of FH.
  • To discuss advancements in understanding FH genetics.

Main Methods:

  • Review of existing literature on FH genetics.
  • Analysis of genetic mutations (LDLR, APOB, PCSK9) and polygenic factors.
  • Discussion of emerging genotyping technologies like next-generation sequencing.

Main Results:

  • Mutations in LDLR, APOB, or PCSK9 genes cause FH in approximately 40% of clinically diagnosed patients.
  • A polygenic aetiology, involving common LDL-C-raising variants, is likely in the remaining cases.
  • Genetic factors influence cardiovascular presentation and management strategies.

Conclusions:

  • The genetic architecture of FH is complex, involving both monogenic and polygenic factors.
  • Next-generation sequencing promises a deeper understanding of FH's genetic basis.
  • Personalized approaches to FH management may arise from improved genetic insights.
Abstract

Keywords:
APOB geneFamilial hypercholesterolaemiaLDLR genePCSK9 genePolygenic hypercholesterolaemia

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