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脂肪酸去饱和酶基因簇的遗传变异与日本男性的血浆低密度脂蛋白胆固醇水平相关。

Genetic variants of the fatty acid desaturase gene cluster are associated with plasma LDL cholesterol levels in Japanese males.

作者信息

Sone Yasuko, Kido Toshimi, Ainuki Tomomi, Sonoda Mariko, Ichi Ikuyo, Kodama Satoru, Sone Hirohito, Kondo Kazuo, Morita Yutaka, Egawa Shigenobu, Kawahara Kazuo, Otsuka Yuzuru, Fujiwara Yoko

机构信息

Institute of Environmental Science for Human Life, Ochanomizu University.

出版信息

J Nutr Sci Vitaminol (Tokyo). 2013;59(4):325-35. doi: 10.3177/jnsv.59.325.

DOI:10.3177/jnsv.59.325
PMID:24064733
Abstract

Fatty acid (FA) compositions in tissues are related to metabolic disorders, and consequently the appropriate management of underlying FA compositions in tissues is considered to be important. However, the relationship among the serum lipid profiles, the FA composition of the red blood cell (RBC) membranes and genetic variations in the fatty acid desaturase (FADS) genes in Japanese men is unclear. In this study, the subjects recruited were 137 Japanese men, 40 to 60 y old, who had a regular health checkup. Their serum lipid profile and the relative FA composition of the RBC membranes were measured. They were genotyped for the single nucleotide polymorphisms (SNPs) rs174553, rs174546, rs99780 and rs174583 in FADS gene. Multiple regression analysis was conducted to detect the relationship among hyperlipidemia, the FA composition of the RBC and the FADS genotypes. As a result, the homozygous genotype for the minor alleles in rs174553, rs174546, rs99780 were found to be associated with lower low-density lipoprotein cholesterol (LDL-C) levels and a lower LDL-C/total-cholesterol ratio. The homozygous genotype for the minor alleles reduced the risk of high LDL-C level (R2=0.50, β=-0.20, p=0.009), whereas, the arachidonic acid (AA) levels in the carriers of the homozygous genotype for the minor alleles tended to be lower compared with the carriers of the major alleles. However, no significant differences were observed in any FA level among the three genotypes for four SNPs. These results indicate that the appropriate management of serum LDL-C levels depending on genetic predisposition in FADS genotypes should be encouraged.

摘要

组织中的脂肪酸(FA)组成与代谢紊乱有关,因此,对组织中潜在的FA组成进行适当管理被认为很重要。然而,日本男性的血脂谱、红细胞(RBC)膜的FA组成与脂肪酸去饱和酶(FADS)基因的遗传变异之间的关系尚不清楚。在本研究中,招募的受试者为137名年龄在40至60岁之间进行定期健康检查的日本男性。测量了他们的血脂谱和RBC膜的相对FA组成。对他们进行了FADS基因中rs174553、rs174546、rs99780和rs174583单核苷酸多态性(SNP)的基因分型。进行多元回归分析以检测高脂血症、RBC的FA组成和FADS基因型之间的关系。结果发现,rs174553、rs174546、rs99780中次要等位基因的纯合基因型与较低的低密度脂蛋白胆固醇(LDL-C)水平和较低的LDL-C/总胆固醇比值相关。次要等位基因的纯合基因型降低了高LDL-C水平的风险(R2=0.50,β=-0.20,p=0.009),然而,次要等位基因纯合基因型携带者的花生四烯酸(AA)水平与主要等位基因携带者相比往往较低。然而,四个SNP的三种基因型之间在任何FA水平上均未观察到显著差异。这些结果表明,应鼓励根据FADS基因型的遗传易感性对血清LDL-C水平进行适当管理。

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