脂肪酸去饱和酶基因单倍型对2型糖尿病患者血浆脂质和脂肪酸影响的研究  

Effect of haplotype in fatty acid desaturase gene on plasma lipids and fatty acids in type 2 diabetes mellitus

作　　者：黎四维[1] 夏维[2] 邓浩华[3] 刘松梅[1] L I Siwei;XIA Wei;DENG Haohua;et al(Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University , Wuhan 430071 ,China)

机构地区：[1]武汉大学中南医院基因诊断中心,430071 [2]武汉市妇女儿童医疗保健中心检验科 [3]武汉大学中南医院内分泌科,430071

出　　处：《中国糖尿病杂志》2018年第1期3-8,共6页Chinese Journal of Diabetes

基　　金：国家自然科学基金(81271919;81472023)

摘　　要：目的探讨脂肪酸去饱和酶(FADS)基因单倍型对T2DM血浆脂质和脂肪酸水平的影响。方法采用高分辨熔解曲线小片段扩增法对234例T2DM患者,185例T2DM合并冠心病(CAD)患者以及253名健康体检人员的FADS基因SNP位点(rs174537、rs174616、rs174460、rs174450)进行基因分型,气相色谱质谱联用技术分析血浆脂肪酸含量。采用SNPStats软件构建单倍型,分析单倍型与血浆脂质、脂肪酸水平的相关性。结果 T2DM组TCTA单倍型较非TCTA单倍型患者△5-脂肪酸去饱和酶(D5D)活性降低[4.57(3.49,7.19)vs 5.65(4.03,10.10),P=0.023],而硬脂酰辅酶A去饱和酶活性升高[D9D-16:0.04(0.02,0.07)vs 0.03(0.01,0.06),P=0.046;D9D-18:(2.02±0.69)vs(1.89±0.70),P=0.028]。结论 FADS基因单倍型通过影响脂肪酸去饱和酶的活性来调节T2DM血浆脂质和脂肪酸水平。Objective To explore whether the haplotypes in FADS gene associate with plasma lipids and fatty acids in T2DM patients.Methods 234 T2DM patients,185 T2DM patients with CAD and 253 healthy controls were enrolled in this study.High-resolution melting system and gas chromatography-mass spectrometry were used to determine the genotypes of the four SNPs located in FADS gene cluster（rs174537,rs174616,rs174460 and rs174450）and plasma fatty acids,respectively.SNPStats software was used to build haplotype and analyze the association between plasma lipids,fatty acids and different haplotypes.Results T2DM patients with TCTA haplotype,compared with non TCTA haplotype,had decreased D5D activity[4.57（3.49,7.19）vs 5.65（4.03,10.10）,P=0.023]and increased SCD activity[D9D-16：0.04（0.02,0.07）vs 0.03（0.01,0.06）,P=0.046;D9D-18：（2.02±0.69）vs（1.89±0.70）,P=0.028].Conclusion TCTA haplotype in FADS gene can influence plasma lipids and fatty acids by altering the fatty acid desaturase activities in T2DM patients.

关 键 词：糖尿病 2型 脂肪酸去饱和酶 单倍型 血脂 脂肪酸 

分 类 号：R587.1[医药卫生—内分泌]