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Scripta Scientifica Pharmaceutica

ASSOCIATION BETWEEN A FATTY ACID DESATURASE 1 GENE POLYMORPHISM AND BLOOD PLASMA CHOLESTEROL BIOMARKERS IN BULGARIAN ELDERLY

Elena Kuzova, Tzveta Georgieva, Veselka Duleva, Zdravka Radionova, Vanya Birdanova, Ivelina Himcheva

Abstract

Introduction: A particular single nucleotide polymorphism (SNP), rs174547, of the fatty acids desaturase (FADS) 1 gene has been significantly associated with low-density lipoproteins (LDL), high-density lipoproteins (HDL), and triglyceride blood plasma concentrations according to published data. FADS1 and FADS2, encoded by FADS1 and FADS2 genes, are membrane-bound key enzymes, rate limiting in the synthesis of long-chain polyunsaturated fatty acids - arachidonic, eicosapentaenoic and docosahexaenoic acid from their dietary precursors linoleic (C18:2 n-6) and α-linolenic acid (C18:3n-3).

Aim: The study aims to detect and determine individual variants of the rs174547 SNP among Bulgarians and analyze a possible association between the allele variants and blood plasma cholesterol levels, being strong indicators for cardiovascular health and lipid metabolism.

Materials and Methods: Bulgarian volunteers (N=123) were randomly selected and following standard DNA extraction from buccal swabs, genetically tested for their allele variant (C/T) of the rs174547 SNP in FADS1 gene by real-time polymerase chain reaction. Laboratory assessment for cholesterol profile, triglycerides and blood sugar was performed, together with bio-impedancemetry for body composition analysis. Dietary information was obtained by a modified diet history methodology combining a Food Frequency Questionnaire, two 24-hour Food Recall Questionnaires and General Lifestyle Questionnaire.

Results and Conclusion: Individual genotypes were determined and results were analyzed in order to unveil the magnitude of influence of the given SNP over the studied metabolic pathways. The rs174547 SNP could provide valuable information concerning individual’s fatty acid metabolism and may support nutritionists when nutritional requirements for omega-3 and omega-6 fatty acids are estimated. It can also play a predictive role for developing future chronic illnesses and conditions. If so, this molecular biomarker could be successfully integrated in panels of nutrigenetic profiles concerning lipid and cholesterol metabolism and thus enhance the development of personalized nutrition and medicine.

Acknowledgements: National Center of Public Health and Analyses, Sofia and Medical University – Pleven


Keywords

genetic variants, FADS1 genes, plasma cholesterol levels, personalized nutrition




DOI: http://dx.doi.org/10.14748/ssp.v4i1.4003

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About The Authors

Elena Kuzova

Tzveta Georgieva

Veselka Duleva

Zdravka Radionova

Vanya Birdanova

Ivelina Himcheva

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