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Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular

Hoh Boon-Peng1,2, Julia Ashazila Mat Jusoh1, Christian R Marshall3,4

  • 1Institute of Medical Molecular Biotechnology, Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh Campus, Jalan Hospital, 47000 Sungai Buloh, Selangor, Malaysia.

Plos One
|March 2, 2016
PubMed

Insights

Rare copy number variants (CNVs) may contribute to left ventricular hypertrophy (LVH) in hypertensive patients. These genetic variations, though individually uncommon, appear linked to the development of this serious cardiovascular condition.

Area of Science:

  • Cardiovascular Genetics
  • Genomics
  • Hypertension Research

Background:

  • Left ventricular hypertrophy (LVH) is a significant risk factor for cardiovascular morbidity and mortality.
  • LVH in hypertensive patients has a complex, multifactorial, and polygenic basis.
  • The role of rare genetic variations in LVH pathogenesis remains incompletely understood.

Purpose of the Study:

  • To investigate the potential contribution of rare copy number variants (CNVs) to the pathogenesis of LVH in hypertensive patients.
  • To identify specific CNVs associated with hypertension-related LVH.
  • To explore the functional implications of identified CNVs in cardiac development and disease.

Main Methods:

  • Genotyping of 258 hypertensive patients, including 95 with LVH, using a high-resolution SNP array.
  • Identification and stringent filtering of rare and private CNVs.
  • Gene Ontology, pathway, and network enrichment analyses to assess functional relevance.

Main Results:

  • 208 rare or private CNVs were identified exclusively in hypertensive patients with LVH.
  • Functional analyses confirmed the involvement of genes related to cardiac development and phenotypes.
  • Network analyses indicated involvement in transcription factors regulating the "foetal cardiac gene programme" and hypertrophic cascade.

Conclusions:

  • Multiple, individually rare CNVs altering specific genes may contribute to the pathogenesis of hypertension-related LVH.
  • These findings provide supporting evidence for the impact of rare CNVs on susceptibility to common complex diseases like hypertension-related LVH.
  • Rare CNVs represent a potential factor in the lower heritability observed in this condition.

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