Gittess David, Thompson Iain, Traktuev Dmitry O, Duarte Julio D, Keeley Ellen C
Department of Medicine, University of Florida, Gainesville, FL, United States of America.
Division of Pulmonary, Critical care and Sleep Medicine, University of Florida, United States of America.
Am Heart J Plus. 2025 Mar 22;53:100529. doi: 10.1016/j.ahjo.2025.100529. eCollection 2025 May.
Omega (ω)-3 polyunsaturated fatty acids (PUFAs) have gained prominence for their putative cardioprotective functions. However, the data supporting their beneficial effects has been inconsistent. One possible explanation is that there is genetic variability in the fatty acid desaturase () 1 and 2 genes (encoding the delta-5 and delta-6 desaturase enzymes, respectively) which may influence PUFA levels. These enzymes are responsible for adding a double bond to the tails of ω-3 fatty acids and constitute the rate limiting step in ω-3 PUFA processing. As a result, they appear to have downstream effects on circulating blood levels of ω-3 PUFAs. In this review, we discuss commonly reported genetic variants within the genes that have been associated with cardiovascular disease and/or cardiovascular risk factors. In addition, we summarize the data assessing the association between these genetic variants and the incidence of cardiovascular disease and cardiovascular risk factors, desaturase expression, circulating blood levels of ω-3 PUFAs, and the effect of diet and ω-3 dietary supplements on circulating levels.
ω-3多不饱和脂肪酸（PUFAs）因其假定的心脏保护功能而备受关注。然而，支持其有益作用的数据并不一致。一种可能的解释是，脂肪酸去饱和酶1和2基因（分别编码δ-5和δ-6去饱和酶）存在基因变异性，这可能会影响PUFA水平。这些酶负责在ω-3脂肪酸的尾部添加一个双键，是ω-3多不饱和脂肪酸加工过程中的限速步骤。因此，它们似乎对循环血液中ω-3多不饱和脂肪酸的水平有下游影响。在这篇综述中，我们讨论了与心血管疾病和/或心血管危险因素相关的常见报道的基因变异。此外，我们总结了评估这些基因变异与心血管疾病发病率、心血管危险因素、去饱和酶表达、循环血液中ω-3多不饱和脂肪酸水平以及饮食和ω-3膳食补充剂对循环水平影响之间关联的数据。
