仫佬族和汉族人群中ST3GAL4基因rs11220462多态性与血脂水平的关联
Association of the ST3GAL4 rs11220462 polymorphism and serum lipid levels in the Mulao and Han populations.
作者信息
Lin Quan-Zhen, Yin Rui-Xing, Guo Tao, Wu Jian, Sun Jia-Qi, Shen Shao-Wen, Shi Guang-Yuan, Wu Jin-Zhen, Liu Cheng-Wu, Pan Shang-Ling
机构信息
Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Guangxi Medical University, 22 Shuangyong Road, Nanning 530021 Guangxi, People's Republic of China.
出版信息
Lipids Health Dis. 2014 Aug 3;13:123. doi: 10.1186/1476-511X-13-123.
BACKGROUND
A previous genome-wide association study has displayed the association of the ST3 beta-galactoside alpha-2,3-sialytransferase 4 (ST3GAL4) gene variant and lipid traits in the individuals of European ancestry, but the reproducibility of this association has not been detected in the Chinese population. The present study was undertaken to detect the association of ST3GAL4 rs11220462 single nucleotide polymorphism (SNP) and several environmental factors with serum lipid profiles in the Mulao and Han populations.
METHODS
A total of 700 unrelated individuals of Mulao nationality and 694 subjects of Han nationality were randomly selected from our previous stratified randomized samples. Genotypes of the SNP were determined via polymerase chain reaction and restriction fragment length polymorphism in combination with gel electrophoresis, and then verified by direct sequencing.
RESULTS
Serum apolipoprotein (Apo) B levels were higher and the ApoAI/ApoB ratio was lower in Mulao than in Han (P<0.05-0.01). There were no significant differences in the genotypic and allelic frequencies of the ST3GAL4 rs11220462 SNP between the two ethnic groups or between males and females. The A allele carriers in both Mulao males and females had higher total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and ApoB levels than the A allele non-carriers (P<0.05-0.01). The subjects with AA genotype in Han males but not in females had higher TC and triglyceride (TG) levels than the subjects with AG or GG genotype (P<0.01 for each). Multiple linear regression analyses showed that the levels of TC, LDL-C and ApoB in Mulao females; TC and LDL-C in Mulao males; and TC in Han males were correlated with the genotypes (P<0.05-0.001). Serum lipid parameters were also associated with several environmental factors in both ethnic groups (P<0.05 -0.001).
CONCLUSIONS
The association of ST3GAL4 rs11220462 SNP and serum lipid levels was different between the Mulao and Han populations, suggesting that there may be a racial/ethnic-specific association, and/or sex-specific association between the ST3GAL4 rs11220462 SNP and serum lipid parameters in some ethnic groups.
背景
先前的一项全基因组关联研究显示，在欧洲血统个体中，ST3β-半乳糖苷α-2,3-唾液酸转移酶4（ST3GAL4）基因变异与血脂性状相关，但在中国人群中尚未检测到这种关联的可重复性。本研究旨在检测ST3GAL4 rs11220462单核苷酸多态性（SNP）以及几种环境因素与仫佬族和汉族人群血清脂质谱的关联。
方法
从我们之前的分层随机样本中随机选取700名无关的仫佬族个体和694名汉族个体。通过聚合酶链反应和限制性片段长度多态性结合凝胶电泳确定该SNP的基因型，然后通过直接测序进行验证。
结果
仫佬族的血清载脂蛋白（Apo）B水平较高，ApoAI/ApoB比值较低，汉族则相反（P<0.05 - 0.01）。两个民族之间以及男性和女性之间，ST3GAL4 rs11220462 SNP的基因型和等位基因频率均无显著差异。仫佬族男性和女性中的A等位基因携带者的总胆固醇（TC）、低密度脂蛋白胆固醇（LDL-C）和ApoB水平均高于非A等位基因携带者（P<0.05 - 0.01）。汉族男性中AA基因型个体的TC和甘油三酯（TG）水平高于AG或GG基因型个体，但女性中未发现此差异（均P<0.01）。多元线性回归分析表明，仫佬族女性的TC、LDL-C和ApoB水平；仫佬族男性的TC和LDL-C水平；以及汉族男性的TC水平与基因型相关（P<0.05 - 0.001）。两个民族的血清脂质参数也与几种环境因素相关（P<0.05 - 0.001）。
结论
ST3GAL4 rs11220462 SNP与血清脂质水平的关联在仫佬族和汉族人群中有所不同，这表明在某些民族中，ST3GAL4 rs11220462 SNP与血清脂质参数之间可能存在种族/民族特异性关联和/或性别特异性关联。
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