👤 Marina Maintinguer Norde

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 (SDC₁₈₎ 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. Show less

Dyslipidemia can be influenced by genetic and dietary risk factors. This study set out to investigate diet and genetic variations in Brazilian people in a cross-sectional population-based survey and to analyze the relationship between single nucleotide polymorphisms (SNPs) of genes involved in lipid metabolism and cardiometabolic-related phenotypes using a genetic risk score (GRS). We recruited 228 adults (mean age 36.5 years) who participated in the Health Survey of São Paulo (HS-SP), Brazil. Clinical and anthropometric parameters, as well as the interaction between the GRS and the Brazilian Healthy Eating Index Revised (BHEI-R) were evaluated. We analyzed the relationship between SNPs in APOA5 (rs662799), APOB (rs693, rs1367117), LDLR (rs688, rs5925) and LIPC (rs2070895, rs1800588) and cardiometabolic-related phenotypes using a GRS. High-density lipoprotein cholesterol (HDLC) levels were associated with the BHEI-R ( p=0.026; β= -0.183) and with its SoFAAS component (solid fats, alcoholic beverages and added sugars) ( p=0.007; β=0.279). Non-HDL cholesterol levels were associated with the BHEI-R vegetable component ( p=0.015; β=0.002) and the meat, eggs and beans component ( p=0.003; β=0.007). Triacylglycerol levels were associated with the BHEI-R vegetable component ( p=0.027; β=0.003); the meat, eggs and beans component ( p=0.041; β=0.001); and the total protein component ( p=0.013; β=0.032). Significant effects were observed for the interactions between the GRS and both the BHEI-R oils component ( p=0.019) and the SoFAAS component ( p<0.001) on the dyslipidemia risk. The evaluation of dietary quality, especially fat quality, together with the lipid metabolism GRS could be a useful tool to manage cardiometabolic risk. Show less