Abstract
Genetic variability in the FADS1-FADS2 gene cluster [encoding delta-5 (D5D) and delta-6 (D6D) desaturases] has been associated with plasma long-chain PUFA (LCPUFA) and lipid levels in adults. To better understand these relationships, we further characterized the association between FADS1-FADS2 genetic variability and D5D and D6D activities in adolescents. Thirteen single nucleotide polymorphisms (SNPs) were genotyped in 1,144 European adolescents (mean +/- SD age: 14.7 +/- 1.4 y). Serum phospholipid fatty acid levels were analyzed using gas chromatography. D5D and D6D activities were estimated from the C20:4n-6/C20:3n-6 and C20:3n-6/C18:2n-6 ratios, respectively. Minor alleles of nine SNPs were associated with higher 18:2n-6 levels (1.9E-18 <or= P <or= 6.1E-5), lower C20:4n-6 levels (7.1E-69 <or= P <or= 1.2E-12), and lower D5D activity (7.2E-44 <or= P <or= 4.4E-5). All haplotypes carrying the rs174546 minor allele were associated with lower D5D activity, suggesting that this SNP is in linkage disequilibrium with a functional SNP within FADS1. In contrast, only the rs968567 minor allele was associated with higher D6D activity (P = 1.5E-6). This finding agrees with an earlier in vitro study showing that the minor allele of rs968567 is associated with a higher FADS2 promoter activity. These results suggest that rare alleles of several SNPs in the FADS gene cluster are associated with higher D6D activity and lower D5D activity in European adolescents.
Highlights
Genetic variability in the FADS1-FADS2 gene cluster [encoding delta-5 (D5D) and delta-6 (D6D) desaturases] has been associated with plasma long-chain PUFA (LCPUFA) and lipid levels in adults
These results suggest that rare alleles of several single nucleotide polymorphism (SNP) in the FADS gene cluster are associated with higher delta-6 desaturase (D6D) activity and lower Delta-5 desaturase (D5D) activity in European adolescents.—Bokor, S., J
Haplotypes carrying the rs174546 minor allele were consistently associated with both lower C20:4n-6 levels and lower D5D activity, suggesting that rs174546 could be in linkage disequilibrium with a functional SNP that affects FADS1
Summary
The recruitment and phenotyping of the adolescents participating in the HELENA cross-sectional study (“Healthy Lifestyle in Europe by Nutrition in Adolescence,” www.helenastudy.com) have been described previously [20]. A total of 3,865 adolescents were recruited between 2006 and 2007. Data were collected in a total of 10 centers from 9 European countries. Subjects were randomly selected from schools by using a proportional cluster sampling methodology and taking age into account. Onethird of the classes were randomly selected for blood collection; this resulted in a total of 1,155 blood samples. The body mass index (BMI) was available for 1,144 adolescents (i.e., the final sample in the present study). Venous blood samples were drawn after a 10 h overnight fast. Blood samples were sent to a central laboratory (the Analytical Laboratory at the University of Bonn, Bonn, Germany). Blood for DNA extraction was collected in EDTA K3 tubes, stored at the Analytical Laboratory at the University of Bonn, Fig. 1. ALA: ␣-linoleic acid; ARA: arachidonic acid; DGLA: dihomo-␥-linoleic acid; DHA: docosahexaenoic acid; EPA: eicosapentaenoic acid; GLA: ␥-linoleic acid; LA: linoleic acid; SA: stearidonic acid
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