Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Clin Nutr. 2010 Jun;29(3):277-87. doi: 10.1016/j.clnu.2009.11.005. Epub 2009 Nov 30.
Several physiological processes, such as visual and cognitive development in early life, are dependent on the availability of long-chain polyunsaturated fatty acids (LC-PUFAs). Furthermore, the concentration of LC-PUFAs in phospholipids has been associated with numerous complex diseases like cardiovascular disease, atopic disease and metabolic syndrome. The level and composition of LC-PUFAs in the human body is mainly dependent on their dietary intake or on the intake of fatty acid precursors, which are endogenously elongated and desaturated to physiologically active LC-PUFAs. The delta-5 and delta-6 desaturase are the most important enzymes in this reaction cascade. In the last few years, several studies have reported an association between single nucleotide polymorphisms (SNPs) in the two desaturase encoding genes (FADS1 and FADS2) and the concentration of omega-6 and omega-3 fatty acids. This shows that beside nutrition, genetic factors play an important role in the regulation of LC-PUFAs as well. This review focuses on current knowledge of the impact of FADS genotypes on LC-PUFA and lipid metabolism and discusses their influence on infant intellectual development, neurological conditions, metabolic disease as well as cardiovascular disease.
一些生理过程，如生命早期的视觉和认知发育，依赖于长链多不饱和脂肪酸（LC-PUFAs）的供应。此外，磷脂中 LC-PUFA 的浓度与许多复杂疾病有关，如心血管疾病、特应性疾病和代谢综合征。人体内 LC-PUFA 的水平和组成主要取决于其饮食摄入或脂肪酸前体的摄入，这些前体可在体内内源性延长和去饱和为具有生理活性的 LC-PUFA。δ-5 和 δ-6 去饱和酶是该反应级联中的最重要的酶。在过去的几年中，几项研究报告了两种去饱和酶编码基因（FADS1 和 FADS2）中的单核苷酸多态性（SNPs）与 ω-6 和 ω-3 脂肪酸浓度之间的关联。这表明，除了营养，遗传因素在 LC-PUFA 的调节中也起着重要作用。这篇综述重点介绍了 FADS 基因型对 LC-PUFA 和脂质代谢的影响的最新知识，并讨论了它们对婴儿智力发育、神经状况、代谢疾病以及心血管疾病的影响。
