Pan Ling, Mo Man-Qiu, Miao Liu, Zhang Qing-Hui, Yang Shuo, Gao Hui, Huang Feng, Pan Shang-Ling, Yin Rui-Xing
Department of Nephrology, Institute of Urology, The First Affiliated Hospital, Guangxi Medical University Nanning, Guangxi, People's Republic of China.
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University Nanning, Guangxi, People's Republic of China.
Int J Clin Exp Pathol. 2018 Mar 1;11(3):1466-1483. eCollection 2018.
The correlation between the rs11030104 single nucleotide polymorphism (SNP) and serum lipid levels has been understudied. The present study was conducted to detect the association of the rs11030104 SNP and several environmental factors with serum lipid levels in the Jing and Han nationalities. Genotypes of the rs11030104 SNP in 709 unrelated subjects of Han and 706 unrelated participants of Jing populations were determined by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and further verified by direct sequencing. There was no significant difference in either genotypic or allelic frequencies between the Han and Jing populations. The genotypic and allelic frequencies of the SNP in Jing but not in Han populations were different between male and female subgroups (<0.05 for each). The levels of serum total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) in the Jing population were different among the genotypes, the G allele carriers had lower TC and LDL-C levels than the G allele non-carriers. Subgroup analyses showed that the differences in serum TC and LDL-C levels among the genotypes were observed in the Jing males but not in females. Serum lipid profiles were also significantly associated with some environmental factors in the Han and Jing populations, or in male and female subgroups of the two ethnic groups (<0.05 for all). Our study exhibited a correlation between the rs11030104 SNP and serum TC and LDL-C levels in the Jing males. These results indicate that there may be a racial/ethnic- and/or sex-specific association of the rs11030104 SNP and serum lipid parameters.
rs11030104单核苷酸多态性（SNP）与血脂水平之间的相关性研究较少。本研究旨在检测rs11030104 SNP以及几种环境因素与京族和汉族血脂水平的关联。采用聚合酶链反应和限制性片段长度多态性结合凝胶电泳的方法，对709名汉族无关个体和706名京族无关个体的rs11030104 SNP基因型进行测定，并通过直接测序进一步验证。汉族和京族人群的基因型频率和等位基因频率均无显著差异。京族人群中该SNP的基因型频率和等位基因频率在男性和女性亚组之间存在差异（各P<0.05），而汉族人群中不存在此差异。京族人群中血清总胆固醇（TC）和低密度脂蛋白胆固醇（LDL-C）水平在不同基因型之间存在差异，G等位基因携带者的TC和LDL-C水平低于非G等位基因携带者。亚组分析显示，基因型间血清TC和LDL-C水平的差异仅在京族男性中观察到，而在女性中未观察到。汉族和京族人群，或两个民族的男性和女性亚组中，血脂谱也与一些环境因素显著相关（所有P<0.05）。我们的研究显示rs11030104 SNP与京族男性血清TC和LDL-C水平之间存在相关性。这些结果表明，rs11030104 SNP与血脂参数之间可能存在种族/民族和/或性别特异性关联。
