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Introduction: A particular single nucleotide polymorphism (rs174547) was identified in the FADS1 gene according to published data, with significant association between its variants and the metabolism of fatty acids. Objective: To develop, adapt and verify methodology for detection and analysis of FADS1 genetic variants (SNPs) in a small scale setting (pilot study), as these SNPs have been associated with the metabolism of fatty acids. Methods: A specific primer set targeted at the SNP region was designed and the reaction was optimized under various conditions: primer concentrations, reaction temperatures, duration and number of amplification cycles, etc. A pilot group of 10 subjects from Bulgarian volunteers were randomly picked and tested in order that the optimized conditions were verified. Following standard DNA extraction from buccal swabs, a polymerase chain reaction was performed amplifying a 243 bp fragment, with the C/T SNP contained inside. The amplicon was visualized after 40 min electrophoresis on a 2% agar’s gel. Products were then run on a capillary sequencer (Sanger type sequencing), and obtained data were read with the MEGA5 software. Results: The proposed system for detection and analysis of SNPs in the FADS1 gene was optimized and probated for the first time in Bulgaria. Thus, although a small-scale pilot study, its results represent primary data originated from Bulgarian individuals. It was shown that under the optimized reaction condition our primer systems produced an amplicon with the expected size and indeed contained a fragment from the FADS1 gene, with the analyzed C/T SNP inside. Conclusions: The introduction of molecular biomarkers would allow an individual assessment of the fatty acid metabolism to be made.Thereby, the developed and probated methodology, if is to be applied in a large scale setting, would help to investigate the relationship and influence of genetic predisposition, individual metabolism and food intake.

Development of methodology for analysis of the FADS1 genetic variants: First pilot study in Bulgaria