FADS1 and ELOVL2 polymorphisms reveal associations for differences in lipid metabolism in a cross-sectional population-based survey of Brazilian men and women

Nutr Res. 2020 Jun;78:42-49. doi: 10.1016/j.nutres.2020.04.003. Epub 2020 Apr 22.


Cardiometabolic risk involves environmental and genetic factors. We aimed to investigate the relationship between plasma fatty acids and single nucleotide polymorphisms (SNPs), located in elongase and desaturases genes, and cardiometabolic parameters in a cross-sectional population-based survey. A sample of 226 adults who participated in the Health Survey of Sao Paulo, Brazil, was selected. Clinical and anthropometric variables, plasma lipoprotein, and fatty acid were evaluated. We hypothesized that differences in SNPs could lead to changes in plasma long-chain polyunsaturated fatty acids. We analyzed the relationship between SNPs in FADS1 (rs174546) and ELOVL2 (rs953413) genes, plasma fatty acid profiles, and cardiometabolic-related phenotypes using multiple linear regression, which was adjusted for confounders. Plasma high-density lipoprotein cholesterol and low-density lipoprotein cholesterol levels were significantly lower in carriers of the T allele for the FADS1 SNP. Plasma oleic acid levels were statistically higher in individuals with CT/TT genotypes in the FADS1 and AG/GG genotypes in the ELOVL2 SNPs in comparison to the CC and AA genotypes, respectively. Higher levels of linoleic and linolenic acid were found for T-allele carriers of FADS1 SNP. The estimated activity of the stearoyl CoA desaturase enzyme (SDC_18) was higher in the CT/TT genotypes (FADS1). Delta-5 desaturase estimated activity was statistically lower in the presence of the minor FADS1 allele. The estimated activity of the enzyme delta-6 desaturase was statistically lower for FADS1 CT and TT genotypes. SNPs in FADS1 and ELOVL2 genes showed protective associations for lipid metabolism and could be markers of lower cardiometabolic risk.

Keywords: Cardiovascular disease; Genetic polymorphisms; Lipid metabolism; Nutrigenetics; Polyunsaturated fatty acids.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brazil
  • Cardiometabolic Risk Factors
  • Cholesterol / blood
  • Cross-Sectional Studies
  • Delta-5 Fatty Acid Desaturase
  • Fatty Acid Desaturases / genetics*
  • Fatty Acid Desaturases / metabolism
  • Fatty Acid Elongases / genetics*
  • Fatty Acids / blood
  • Fatty Acids, Unsaturated / metabolism
  • Female
  • Genotype
  • Humans
  • Lipid Metabolism*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Stearoyl-CoA Desaturase / metabolism
  • Young Adult


  • Delta-5 Fatty Acid Desaturase
  • ELOVL2 protein, human
  • Fatty Acids
  • Fatty Acids, Unsaturated
  • Cholesterol
  • Fatty Acid Desaturases
  • Stearoyl-CoA Desaturase
  • FADS1 protein, human
  • Fatty Acid Elongases