The impact of fatty acid desaturase genotype on fatty acid status and cardiovascular health in adults

Proc Nutr Soc. 2017 Feb;76(1):64-75. doi: 10.1017/S0029665116000732. Epub 2016 Aug 16.


The aim of this review was to determine the impact of the fatty acid desaturase (FADS) genotype on plasma and tissue concentrations of the long-chain (LC) n-3 PUFA, including EPA and DHA, which are associated with the risk of several diet-related chronic diseases, including CVD. In addition to dietary intakes, which are low for many individuals, tissue EPA and DHA are also influenced by the rate of bioconversion from α-linolenic acid (αLNA). Δ-5 and Δ-6 desaturase enzymes, encoded for by FADS1 and FADS2 genes, are key desaturation enzymes involved in the bioconversion of essential fatty acids (αLNA and linoleic acid (LA)) to longer chained PUFA. In general, carriers of FADS minor alleles tend to have higher habitual plasma and tissue levels of LA and αLNA, and lower levels of arachidonic acid, EPA and also to a lesser extent DHA. In conclusion, available research findings suggest that FADS minor alleles are also associated with reduced inflammation and CVD risk, and that dietary total fat and fatty acid intake have the potential to modify relationships between FADS gene variants and circulating fatty acid levels. However to date, neither the size-effects of FADS variants on fatty acid status, nor the functional SNP in FADS1 and 2 have been identified. Such information could contribute to the refinement and targeting of EPA and DHA recommendations, whereby additional LC n-3 PUFA intakes could be recommended for those carrying FADS minor alleles.

Keywords: FADS; AA arachidonic acid; FADS fatty acid desaturase; LA linoleic acid; LC long-chain; αLNA α-linolenic acid; Arachidonic acid; CVD; Cardiovascular; DHA; EPA; Genotype; Long-chain PUFA.

Publication types

  • Review

MeSH terms

  • Arachidonic Acid / analysis
  • Cardiovascular Diseases / genetics*
  • Delta-5 Fatty Acid Desaturase
  • Diet
  • Dietary Fats / administration & dosage
  • Fatty Acid Desaturases / genetics*
  • Fatty Acids / analysis*
  • Fatty Acids / blood*
  • Fatty Acids, Omega-3 / administration & dosage
  • Fatty Acids, Omega-3 / analysis
  • Fatty Acids, Omega-3 / blood
  • Genotype*
  • Health Status
  • Humans
  • Linoleic Acid / analysis
  • Nutritional Status*
  • alpha-Linolenic Acid / analysis


  • Delta-5 Fatty Acid Desaturase
  • Dietary Fats
  • Fatty Acids
  • Fatty Acids, Omega-3
  • alpha-Linolenic Acid
  • Arachidonic Acid
  • Linoleic Acid
  • Fatty Acid Desaturases
  • FADS1 protein, human