{"doi":"10.1186/s12263-024-00747-4","title":"Genetic association between FADS and ELOVL polymorphisms and the circulating levels of EPA/DHA in humans: a scoping review","abstract":"<jats:title>Abstract</jats:title><jats:sec>\n                <jats:title>Background</jats:title>\n                <jats:p>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). <jats:italic>FADS</jats:italic> and <jats:italic>ELOVL</jats:italic> genes encode the desaturase and elongase enzymes required for EPA and DHA synthesis from ALA; however, single nucleotide polymorphisms (SNPs) in <jats:italic>FADS</jats:italic> and <jats:italic>ELOVL</jats:italic> 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 <jats:italic>FADS or ELOVL.</jats:italic></jats:p>\n              </jats:sec><jats:sec>\n                <jats:title>Methods</jats:title>\n                <jats:p>PubMed, Cochrane, and Scopus databases were used to identify research articles. They were subsequently reviewed by two independent investigators.</jats:p>\n              </jats:sec><jats:sec>\n                <jats:title>Results</jats:title>\n                <jats:p>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 <jats:italic>FADS</jats:italic> and/or <jats:italic>ELOVL</jats:italic> polymorphisms. A total of 47 different SNPs in <jats:italic>FADS</jats:italic> genes were reported. <jats:italic>FADS1</jats:italic> rs174537, rs174547, rs174556 and rs174561 were the most studied SNPs, with minor allele carriers having lower levels of EPA and DHA. SNPs in the <jats:italic>FADS</jats:italic> genes were in high linkage disequilibrium. SNPs in <jats:italic>FADS</jats:italic> were correlated with levels of EPA and DHA. No conclusion could be drawn with the <jats:italic>ELOVL</jats:italic> polymorphisms since the number of studies was too low.</jats:p>\n              </jats:sec><jats:sec>\n                <jats:title>Conclusion</jats:title>\n                <jats:p>Specific SNPs in <jats:italic>FADS</jats:italic> 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.</jats:p>\n              </jats:sec>","journal":"Genes &amp; Nutrition","year":2024,"id":632228,"datarank":0.5570358100056463,"base_score":3.713572066704308,"endowment":3.713572066704308,"self_citation_contribution":0.5570358100056463,"citation_network_contribution":0.0,"self_endowment_contribution":0.5570358100056463,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":40,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":922574,"name":"David M. Mutch","orcid":"0000-0002-0908-7259","position":1,"is_corresponding":false},{"id":1501321,"name":"Mélanie Plourde","orcid":"0000-0002-1575-2825","position":2,"is_corresponding":false},{"id":1638727,"name":"Insaf Loukil","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Genetic association between FADS and ELOVL polymorphisms and the circulating levels of EPA/DHA in humans: a scoping review","abstract":"<jats:title>Abstract</jats:title><jats:sec>\n                <jats:title>Background</jats:title>\n                <jats:p>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). <jats:italic>FADS</jats:italic> and <jats:italic>ELOVL</jats:italic> genes encode the desaturase and elongase enzymes required for EPA and DHA synthesis from ALA; however, single nucleotide polymorphisms (SNPs) in <jats:italic>FADS</jats:italic> and <jats:italic>ELOVL</jats:italic> 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 <jats:italic>FADS or ELOVL.</jats:italic></jats:p>\n              </jats:sec><jats:sec>\n                <jats:title>Methods</jats:title>\n                <jats:p>PubMed, Cochrane, and Scopus databases were used to identify research articles. They were subsequently reviewed by two independent investigators.</jats:p>\n              </jats:sec><jats:sec>\n                <jats:title>Results</jats:title>\n                <jats:p>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 <jats:italic>FADS</jats:italic> and/or <jats:italic>ELOVL</jats:italic> polymorphisms. A total of 47 different SNPs in <jats:italic>FADS</jats:italic> genes were reported. <jats:italic>FADS1</jats:italic> rs174537, rs174547, rs174556 and rs174561 were the most studied SNPs, with minor allele carriers having lower levels of EPA and DHA. SNPs in the <jats:italic>FADS</jats:italic> genes were in high linkage disequilibrium. SNPs in <jats:italic>FADS</jats:italic> were correlated with levels of EPA and DHA. No conclusion could be drawn with the <jats:italic>ELOVL</jats:italic> polymorphisms since the number of studies was too low.</jats:p>\n              </jats:sec><jats:sec>\n                <jats:title>Conclusion</jats:title>\n                <jats:p>Specific SNPs in <jats:italic>FADS</jats:italic> 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.</jats:p>\n              </jats:sec>","is_dataset_classified":null,"base_score":3.6635616461296463,"endowment":3.6635616461296463,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"38844860","pmcid":"PMC11157910","openalex_id":"https://openalex.org/W4399391556","authors":[],"funders":[],"total_grants":0,"fwci":8.6997,"citation_percentile":0.98758087,"influential_citations":0,"citation_trend":[{"year":2024,"count":1},{"year":2025,"count":24},{"year":2026,"count":13}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://genesandnutrition.biomedcentral.com/counter/pdf/10.1186/s12263-024-00747-4","host_type":"journal"},{"url":"https://genesandnutrition.biomedcentral.com/counter/pdf/10.1186/s12263-024-00747-4","host_type":"publisher"},{"url":"https://link.springer.com/content/pdf/10.1186/s12263-024-00747-4.pdf","host_type":"publisher"},{"url":"https://link.springer.com/article/10.1186/s12263-024-00747-4/fulltext.html","host_type":"publisher"},{"url":"https://doi.org/10.1186/s12263-024-00747-4","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/38844860","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11157910","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11157910/pdf/12263_2024_Article_747.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC11157910","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC11157910?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Fatty Acid Research and Health","Eicosanoids and Hypertension Pharmacology","Lipid metabolism and biosynthesis"],"mesh_terms":[],"keywords":["Single-nucleotide polymorphism","Docosahexaenoic acid","Eicosapentaenoic acid","Linkage disequilibrium","Genetics","Gene","Biology","Polyunsaturated fatty acid","Genetic variants","Genome-wide association study","Fatty acid","Biochemistry","Genotype","DHA","EPA","SNP","Fads","Elovl"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"refsnp"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-06T09:15:22.778014Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}