Polymorphisms in FADS genes are associated with plasma long-chain polyunsaturated fatty acids (LC-PUFA) and modulate omega-6/omega-3 balance. We hypothesized that the FADS2 gene variants will be associated with lower product-to-precursor ratio in the fatty acid metabolic pathways. Thus, we explored FADS2 rs174593, rs174616, and rs174576 effects on plasma phospholipid fatty acid profile, markers of desaturase activities, and risk factors in a sample of apparently healthy Serbian adults. Food and nutrient intake data were compiled through 24 h recalls. Plasma phospholipid fatty acid content was assessed by gas-chromatography. Estimated desaturase activities were calculated as conversion rates towards LC-PUFA in omega-6 pathway. During the selection of FADS2 polymorphisms, we accounted for their positional and functional aspect. Genotyping was performed by Real-Time PCR. Multivariable-adjusted general linear and hierarchical regression models were applied. Study subjects (mean age = 40 ± 7 years, 70% who were overweight) had a median dietary omega-6/omega-3 ratio of 16.29. Alternative allele frequencies were 33%, 36%, and 51% for rs174593, rs174576, and rs174616, respectively. Addition of FADS2 alternative alleles was associated with lower plasma arachidonic acid (AA, C20:4 n-6, P < .001) and estimated desaturase-5 activity (P < .001), irrespective of gender, age, daily polyunsaturated/saturated fatty acid intake, and obesity. The rs174576 association with AA withstood multiple testing and additional adjustments for other variants (multivariable-adjusted β = -1.14 [95% CI: -2.25, -0.43]). None of the variants was associated with dietary intake, serum lipids, or obesity. We observed inverse associations between FADS2 variants and plasma AA but not omega-3 fatty acids in Serbian subjects, with rs174576 exhibiting the strongest relation.

中文翻译：

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FADS2 多态性与血浆花生四烯酸和横断面研究中估计的去饱和酶 5 活性有关

FADS 基因中的多态性与血浆长链多不饱和脂肪酸 (LC-PUFA) 相关并调节 omega-6/omega-3 平衡。我们假设 FADS2 基因变体将与脂肪酸代谢途径中较低的产物与前体比率相关。因此，我们研究了 FADS2 rs174593、rs174616 和 rs174576 对明显健康的塞尔维亚成年人样本中血浆磷脂脂肪酸谱、去饱和酶活性标志物和危险因素的影响。食物和营养摄入数据是通过 24 小时召回编制的。通过气相色谱法评估血浆磷脂脂肪酸含量。估计的去饱和酶活性计算为 omega-6 途径中向 LC-PUFA 的转化率。在选择 FADS2 多态性的过程中，我们考虑了它们的位置和功能方面。基因分型通过实时 PCR 进行。应用了多变量调整的一般线性和层次回归模型。研究对象（平均年龄 = 40 ± 7 岁，70% 超重）饮食中 omega-6/omega-3 的比例为 16.29。rs174593、rs174576 和 rs174616 的替代等位基因频率分别为 33%、36% 和 51%。添加 FADS2 替代等位基因与较低的血浆花生四烯酸 (AA, C20:4 n-6, P < .001) 和估计的去饱和酶 5 活性 (P < .001) 相关，无论性别、年龄、每日多不饱和/饱和脂肪酸摄入量，与肥胖有关。rs174576 与 AA 的关联经受住了对其他变体的多次测试和额外调整（多变量调整 β = -1.14 [95% CI：-2.25，-0.43]）。没有一个变异与饮食摄入量、血脂、或肥胖。我们在塞尔维亚受试者中观察到 FADS2 变体与血浆 AA 之间的负相关，但不是 omega-3 脂肪酸，其中 rs174576 表现出最强的相关性。