{"title":"人类 FADS 和 ELOVL 多态性与 EPA/DHA 循环水平之间的遗传关联：范围综述。","authors":"Insaf Loukil, David M Mutch, Mélanie Plourde","doi":"10.1186/s12263-024-00747-4","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>PubMed, Cochrane, and Scopus databases were used to identify research articles. They were subsequently reviewed by two independent investigators.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":null,"pages":null},"PeriodicalIF":3.3000,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157910/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genetic association between FADS and ELOVL polymorphisms and the circulating levels of EPA/DHA in humans: a scoping review.\",\"authors\":\"Insaf Loukil, David M Mutch, Mélanie Plourde\",\"doi\":\"10.1186/s12263-024-00747-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>PubMed, Cochrane, and Scopus databases were used to identify research articles. They were subsequently reviewed by two independent investigators.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":55123,\"journal\":{\"name\":\"Genes and Nutrition\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2024-06-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157910/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genes and Nutrition\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s12263-024-00747-4\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genes and Nutrition","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12263-024-00747-4","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
背景：二十二碳六烯酸（DHA）和二十碳五烯酸（EPA）是两种可由其前体α-亚麻酸（ALA）合成的欧米伽-3 脂肪酸。FADS 和 ELOVL 基因编码从 ALA 合成 EPA 和 DHA 所需的去饱和酶和延长酶；然而，FADS 和 ELOVL 基因中的单核苷酸多态性（SNPs）可能会改变从 ALA 合成的 EPA 和 DHA 的水平，尽管在这一领域尚未达成共识。本综述旨在研究人体血液中 EPA 和 DHA 的循环水平及其与 FADS 或 ELOVL 的关系：方法：使用 PubMed、Cochrane 和 Scopus 数据库查找研究文章。结果：初步确定了 353 篇论文：初步确定了 353 篇论文。在删除重复和不符合纳入标准的文章后，筛选出 98 篇全文论文。最后，本综述纳入了 40 项调查 FADS 和/或 ELOVL 多态性的研究。共有 47 个不同的 FADS 基因 SNPs 被报道。FADS1 rs174537、rs174547、rs174556 和 rs174561 是研究最多的 SNPs，小等位基因携带者的 EPA 和 DHA 水平较低。FADS 基因中的 SNPs 处于高度连锁不平衡状态。FADS 基因中的 SNP 与 EPA 和 DHA 水平相关。由于 ELOVL 多态性的研究数量太少，因此无法得出结论：结论：FADS 基因中的特定 SNPs（如 rs174537）与 EPA 和 DHA 的循环水平密切相关。有必要继续调查与 EPA 和 DHA 合成有关的基因变异的影响。
Genetic association between FADS and ELOVL polymorphisms and the circulating levels of EPA/DHA in humans: a scoping review.
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.
期刊介绍：
This journal examines the relationship between genetics and nutrition, with the ultimate goal of improving human health. It publishes original research articles and review articles on preclinical research data coming largely from animal, cell culture and other experimental models as well as critical evaluations of human experimental data to help deliver products with medically proven use.
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