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. 2024 Jun 6;19(1):11.
doi: 10.1186/s12263-024-00747-4.

Genetic association between FADS and ELOVL polymorphisms and the circulating levels of EPA/DHA in humans: a scoping review

Insaf Loukil  1   2 , David M Mutch  3 , Mélanie Plourde  4   5
Affiliations

Genetic association between FADS and ELOVL polymorphisms and the circulating levels of EPA/DHA in humans: a scoping review

Insaf Loukil et al. Genes Nutr. .

Abstract

Background: Docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) are two omega-3 fatty acids that can be synthesized out of their precursor alpha-linolenic acid (ALA). FADS and ELOVL genes encode the desaturase and elongase enzymes required for EPA and DHA synthesis from ALA; however, single nucleotide polymorphisms (SNPs) in FADS and ELOVL genes could modify the levels of EPA and DHA synthesized from ALA although there is no consensus in this area. This review aims to investigate EPA and DHA circulating levels in human blood and their association with FADS or ELOVL.

Methods: PubMed, Cochrane, and Scopus databases were used to identify research articles. They were subsequently reviewed by two independent investigators.

Results: Initially, 353 papers were identified. After removing duplicates and articles not meeting inclusion criteria, 98 full text papers were screened. Finally, this review included 40 studies investigating FADS and/or ELOVL polymorphisms. A total of 47 different SNPs in FADS genes were reported. FADS1 rs174537, rs174547, rs174556 and rs174561 were the most studied SNPs, with minor allele carriers having lower levels of EPA and DHA. SNPs in the FADS genes were in high linkage disequilibrium. SNPs in FADS were correlated with levels of EPA and DHA. No conclusion could be drawn with the ELOVL polymorphisms since the number of studies was too low.

Conclusion: Specific SNPs in FADS gene, such as rs174537, have strong associations with circulating levels of EPA and DHA. Continued investigation regarding the impact of genetic variants related to EPA and DHA synthesis is warranted.

Keywords: ELOVL; FADS; DHA; EPA; SNP.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Metabolic pathway of EPA and DHA biosynthesis from ALA via desaturation and elongation steps
Fig. 2
Fig. 2
Literature review flowchart
Fig. 3
Fig. 3
List of studied SNPs in FADS / ELOVL genes in the selected studies
Fig. 4
Fig. 4
List of studies with an association between FADS / ELOVL genetic polymorphisms and EPA levels
Fig. 5
Fig. 5
List of studies with an association between FADS / ELOVL genetic polymorphisms and DHA levels
Fig. 6
Fig. 6
Pairwise linkage disequilibrium D’ and R2 plots of the FADS SNPs associated with EPA/DHA in selected studies
Fig. 7
Fig. 7
Pairwise linkage disequilibrium D’ and R2 plots of the ELOVL SNPs associated with EPA/DHA in selected studies
See this image and copyright information in PMC

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