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FADS和ELOVL基因多态性与人体中EPA/DHA循环水平之间的遗传关联:一项范围综述

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

作者信息

Loukil Insaf, Mutch David M, Plourde Mélanie

机构信息

Research Center on Aging, Health, and Social Sciences Center, Department of Medicine, Sherbrooke University Geriatrics Institute, University of Sherbrooke, Sherbrooke, QC, J1G 1B1, Canada.

Department de Medicine, Faculty of Medicine and health sciences, University of Sherbrooke, Sherbrooke, QC, J1H 5N4, Canada.

出版信息

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

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.

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ω-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(SNP)可能会改变从ALA合成的EPA和DHA的水平,尽管在这一领域尚无共识。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的关联。

方法

使用PubMed、Cochrane和Scopus数据库识别研究文章。随后由两名独立研究人员进行审查。

结果

最初,共识别出353篇论文。在去除重复项和不符合纳入标准的文章后,筛选了98篇全文论文。最后,本综述纳入了40项研究FADS和/或ELOVL多态性的研究。共报道了FADS基因中的47种不同SNP。FADS1 rs174537、rs174547、rs174556和rs174561是研究最多的SNP,次要等位基因携带者的EPA和DHA水平较低。FADS基因中的SNP处于高度连锁不平衡状态。FADS中的SNP与EPA和DHA水平相关。由于研究数量过少,无法就ELOVL多态性得出结论。

结论

FADS基因中的特定SNP,如rs174537,与EPA和DHA的循环水平密切相关。有必要继续研究与EPA和DHA合成相关的基因变异的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbd1/11157910/7a701b52fb1f/12263_2024_747_Fig1_HTML.jpg

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