Integrating lipidomics and genomics: emerging tools to understand cardiovascular diseases

Cell Mol Life Sci. 2021 Mar;78(6):2565-2584. doi: 10.1007/s00018-020-03715-4. Epub 2021 Jan 15.


Cardiovascular diseases (CVDs) are the leading cause of mortality and morbidity worldwide leading to 31% of all global deaths. Early prediction and prevention could greatly reduce the enormous socio-economic burden posed by CVDs. Plasma lipids have been at the center stage of the prediction and prevention strategies for CVDs that have mostly relied on traditional lipids (total cholesterol, total triglycerides, HDL-C and LDL-C). The tremendous advancement in the field of lipidomics in last two decades has facilitated the research efforts to unravel the metabolic dysregulation in CVDs and their genetic determinants, enabling the understanding of pathophysiological mechanisms and identification of predictive biomarkers, beyond traditional lipids. This review presents an overview of the application of lipidomics in epidemiological and genetic studies and their contributions to the current understanding of the field. We review findings of these studies and discuss examples that demonstrates the potential of lipidomics in revealing new biology not captured by traditional lipids and lipoprotein measurements. The promising findings from these studies have raised new opportunities in the fields of personalized and predictive medicine for CVDs. The review further discusses prospects of integrating emerging genomics tools with the high-dimensional lipidome to move forward from the statistical associations towards biological understanding, therapeutic target development and risk prediction. We believe that integrating genomics with lipidome holds a great potential but further advancements in statistical and computational tools are needed to handle the high-dimensional and correlated lipidome.

Keywords: Biomarkers; Disease risk; Genome-wide association studies; Lipid species; Pathophysiology.

Publication types

  • Review

MeSH terms

  • Cardiovascular Diseases / metabolism
  • Cardiovascular Diseases / pathology*
  • Ceramides / metabolism
  • Fatty Acid Desaturases / genetics
  • Fatty Acid Desaturases / metabolism
  • Genomics / methods
  • Humans
  • Life Style
  • Lipid Metabolism / genetics*
  • Lipidomics / methods
  • Lipids / blood
  • Risk Factors


  • Ceramides
  • Lipids
  • Fatty Acid Desaturases