FADS 基因变异与加拿大荷斯坦奶牛乳中 ω-3 和 ω-6 脂肪酸的关系。
Associations between variants of FADS genes and omega-3 and omega-6 milk fatty acids of Canadian Holstein cows.
机构信息
Dairy and Swine Research and Development Centre, Agriculture and Agri-Food Canada, 2000 Rue College, Sherbrooke, Quebec J1M 0C8, Canada.
出版信息
BMC Genet. 2014 Feb 17;15:25. doi: 10.1186/1471-2156-15-25.
BACKGROUND
Fatty acid desaturase 1 (FADS1) and 2 (FADS2) genes code respectively for the enzymes delta-5 and delta-6 desaturases which are rate limiting enzymes in the synthesis of polyunsaturated omega-3 and omega-6 fatty acids (FAs). Omega-3 and-6 FAs as well as conjugated linoleic acid (CLA) are present in bovine milk and have demonstrated positive health effects in humans. Studies in humans have shown significant relationships between genetic variants in FADS1 and 2 genes with plasma and tissue concentrations of omega-3 and-6 FAs. The aim of this study was to evaluate the extent of sequence variations within these two genes in Canadian Holstein cows as well as the association between sequence variants and health promoting FAs in milk.
RESULTS
Thirty three SNPs were detected within the studied regions of genes including a synonymous mutation (FADS1-07, rs42187261, 306Tyr > Tyr) in exon 8 of FADS1, a non-synonymous mutation (FADS2-14, rs211580559, 294Ala > Val) within FADS2 exon 7, a splice site SNP (FADS2-05, rs211263660), a 3'UTR SNP (FADS2-23, rs109772589), and another 3'UTR SNP with an effect on a microRNA binding site within FADS2 gene (FADS2-19, rs210169303). Association analyses showed significant relations between three out of seven tested SNPs and several FAs. Significant associations (FDR P < 0.05) were recorded between FADS2-23 (rs109772589) and two omega-6 FAs (dihomogamma linolenic acid [C20:3n6] and arachidonic acid [C20:4n6]), FADS1-07 (rs42187261) and one omega-3 FA (eicosapentaenoic acid, C20:5n3) and tricosanoic acid (C23:0), and one intronic SNP, FADS1-01 (rs136261927) and C20:3n6.
CONCLUSION
Our study has demonstrated positive associations between three SNPs within FADS1 and FADS2 genes (a SNP within the 3'UTR, a synonymous SNP and an intronic SNP), with three milk PUFAs of Canadian Holstein cows thus suggesting possible involvement of synonymous and non-coding region variants in FA synthesis. These SNPs may serve as potential genetic markers in breeding programs to increase milk FAs that are of benefit to human health.
背景
脂肪酸去饱和酶 1（FADS1）和 2（FADS2）基因分别编码δ-5 和 δ-6 去饱和酶，这两种酶是多不饱和ω-3 和 ω-6 脂肪酸（FA）合成的限速酶。ω-3 和-6 FA 以及共轭亚油酸（CLA）存在于牛乳中，并已在人类中表现出积极的健康影响。在人类中的研究表明，FADS1 和 2 基因中的遗传变异与 ω-3 和-6 FA 在血浆和组织中的浓度之间存在显著关系。本研究旨在评估加拿大荷斯坦奶牛中这两个基因内序列变异的程度，以及序列变异与牛奶中促进健康的 FA 之间的关联。
结果
在研究的基因区域内检测到 33 个单核苷酸多态性（SNP），包括 FADS1 外显子 8 中的同义突变（FADS1-07，rs42187261，306Tyr > Tyr），FADS2 外显子 7 中的非同义突变（FADS2-14，rs211580559，294Ala > Val），剪接位点 SNP（FADS2-05，rs211263660），3'UTR SNP（FADS2-23，rs109772589），以及 FADS2 基因中另一个影响 microRNA 结合位点的 3'UTR SNP（FADS2-19，rs210169303）。关联分析显示，七个测试 SNP 中有三个与多个 FA 之间存在显著关系。FADS2-23（rs109772589）与两种 ω-6 FA（二十二碳六烯酸[C20：3n6]和花生四烯酸[C20：4n6]）、FADS1-07（rs42187261）与一种 ω-3 FA（二十碳五烯酸，C20：5n3）和二十碳三烯酸（C23：0）和一个内含子 SNP，FADS1-01（rs136261927）与 C20：3n6 之间存在显著关联（FDR P < 0.05）。
结论
我们的研究表明，FADS1 和 FADS2 基因内的三个 SNP（一个位于 3'UTR 的 SNP、一个同义 SNP 和一个内含子 SNP）与加拿大荷斯坦奶牛的三种牛奶多不饱和脂肪酸之间存在正相关关系，这表明同义和非编码区变异可能参与了 FA 的合成。这些 SNP 可能作为育种计划中增加对人类健康有益的牛奶 FA 的潜在遗传标记。
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