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

Authors: MIEKO DE MENESES FUJ, TATIANE - Universidad De Sao Paulo; MAINTINGUER NORDE, MARINA - Universidad De Sao Paulo; FISBERG, REGINA MARA - Universidad De Sao Paulo; LOBO MARCHIONI, DIRCE MARIA - Universidad De Sao Paulo; ORDOVAS, JOSE - Jean Mayer Human Nutrition Research Center On Aging At Tufts University; MACEDO ROGERO, MARCELO - Universidad De Sao Paulo

Submitted to: Nutrition Research
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 4/17/2020
Publication Date: 6/1/2020
Citation: Mieko de Meneses Fujii, T., Maintinguer Norde, M., Fisberg, R., Lobo Marchioni, D., Ordovas, J.M., Macedo Rogero, M. 2020. FADS1 and ELOVL2 polymorphisms reveal associations for differences in lipid metabolism in a cross-sectional population-based survey of Brazilian men and women. Nutrition Research. 78:42-49. http://doi.org/10.1016/j.nutres.2020.04.003.
DOI: https://doi.org/10.1016/j.nutres.2020.04.003

Interpretive Summary: An individual's cardiovascular risk is determined by a combination of genetic and environmental factors such as diet and physical activity. In collaboration with Brazilian researchers, scientists at the HNRCA in Boston investigated the relationship between genetic variation at genes involved in the metabolism of blood fats and cardiovascular risk factors. The analysis was performed on a population of 226 adults who participated in the Health Survey of Sao Paulo, Brazil. The results identified a series of genetic variants that were protective against cardiovascular disease risk in this population. These genetic variants could be used in the future as markers of cardiovascular disease risk.

Technical Abstract: 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.