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Mitochondrial related variants associated with cardiovascular traits

Marisa Cañadas-Garre1,2, Joaquín J Maqueda1,3,4, Blanca Baños-Jaime1,5

  • 1Molecular Epidemiology and Public Health Research Group, Centre for Public Health, Queen's University Belfast, Institute for Clinical Sciences A, Royal Victoria Hospital, Belfast, United Kingdom.

Frontiers in Physiology
|September 11, 2024
PubMed

Insights

Mitochondrial DNA (mtDNA) variants and haplogroups are linked to cardiovascular diseases (CVD), hypertension, and serum lipids. Specific genes like NOS3 and TOMM40 also show associations, highlighting mitochondria's role in CVD development.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Research
  • Mitochondrial Biology

Background:

  • Cardiovascular disease (CVD) is a leading global cause of mortality, influenced by complex genetic, clinical, social, and environmental factors.
  • While autosomal genetic variants are increasingly recognized, the etiology of many CVD cases remains unclear.
  • Mitochondria play a critical role in CVD pathophysiology, with recent emphasis on mitochondrial DNA (mtDNA) variants and haplogroups.

Purpose of the Study:

  • To investigate the association of genetic variants in both mtDNA and nuclear-encoded mitochondrial genes (NEMG) with CVD, coronary artery disease (CAD), hypertension, and serum lipids.
  • To perform subgroup analysis for the influence of these variants in individuals with diabetes.
  • To identify novel genetic markers related to CVD and its risk factors.

Main Methods:

  • Analysis of 371,542 variants in 2,527 NEMG and 192 variants in 32 mitochondrial genes.
  • Utilized data from 381,994 participants in the UK Biobank.
  • Stratified analyses based on the presence or absence of diabetes.

Main Results:

  • Mitochondrial variants were associated with CVD, hypertension, and serum lipids.
  • Mitochondrial haplogroups J, T, and U showed significant associations with CAD and/or CVD.
  • Variants in NOS3, TOMM40, SLC22A2, and HLA-DQA1 genes were linked to CVD, CAD, hypertension, blood pressure, and serum lipids.

Conclusions:

  • Mitochondrial variants and haplogroups are relevant to CVD etiology.
  • Mitochondrial haplogroup U is newly linked to CVD, and J and T associations are confirmed.
  • NOS3, SLC22A2, TOMM40, and HLA-DQA1 genes represent potential common pathways in CVD, blood pressure, and lipid regulation, especially in diabetic contexts.
Abstract

Keywords:
UK Biobankblood pressurecardiovascular diseasecoronary artery diseasediabeteshypertensionmitochondrial DNAmitochondrial haplogroups

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