Zhang Qing-Hui, Yin Rui-Xing, Gao Hui, Huang Feng, Wu Jin-Zhen, Pan Shang-Ling, Lin Wei-Xiong, Yang De-Zhai
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, 22 Shuangyong Road, Nanning, Guangxi, 530021, People's Republic of China.
Department of Pathophysiology, School of Premedical Sciences, Guangxi Medical University, Nanning, Guangxi, 530021, People's Republic of China.
Lipids Health Dis. 2017 Jan 5;16(1):1. doi: 10.1186/s12944-016-0392-3.
Little is known about the association of the single nucleotide polymorphism (SNP) of rs364585 near serine palmitoyl-transferase long-chain base subunit 3 gene (SPTLC3) and serum lipid profiles. The present study was detected the association of the SPTLC3 rs364585 SNP and several environmental factors with serum lipid profiles in the Han and Jing populations.
Genotyping of the SPTLC3 rs364585 SNP was performed in 824 unrelated individuals of Han and 783 participants of Jing by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.
There was no significant difference in either genotypic or allelic frequencies between Han and Jing, or between males and females of the both ethnic groups. The levels of serum low-density lipoprotein cholesterol (LDL-C) and the ratio of apolipoprotein (Apo) A1 to ApoB in Han; and total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and LDL-C in Jing were different between the A allele carriers and the A allele non-carriers (P < 0.05-0.001). Subgroup analysis according to sex showed that the levels of LDL-C in Han males; TC and LDL-C in Jing males; and HDL-C and LDL-C in Jing females were different between the A allele carriers and the A allele non-carriers (P < 0.05-0.001), the A allele carriers had higher LDL-C and TC levels, and lower HDL-C levels than the A allele non-carriers. Serum lipid traits were also associated with several environmental factors in the Han and Jing populations, or in males and females of the both ethnic groups.
The present study demonstrates the association between the SPTLC3 rs364585 SNP and serum TC, HDL-C and LDL-C levels in our study populations. These associations might have ethnic- and/or sex-specificity.
Retrospectively registered.
丝氨酸棕榈酰转移酶长链碱基亚基3基因（SPTLC3）附近的单核苷酸多态性（SNP）rs364585与血脂谱之间的关联鲜为人知。本研究检测了SPTLC3 rs364585 SNP及几种环境因素与汉族和京族人群血脂谱的关联。
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技术，对824名汉族无关个体和783名京族参与者进行SPTLC3 rs364585 SNP基因分型，然后通过直接测序进行验证。
汉族和京族之间，以及两个民族的男性和女性之间，基因型频率和等位基因频率均无显著差异。汉族A等位基因携带者和非携带者的血清低密度脂蛋白胆固醇（LDL-C）水平及载脂蛋白（Apo）A1与ApoB的比值不同；京族A等位基因携带者和非携带者的总胆固醇（TC）、高密度脂蛋白胆固醇（HDL-C）和LDL-C水平不同（P<0.05-0.001）。按性别进行的亚组分析显示，汉族男性的LDL-C水平；京族男性的TC和LDL-C水平；京族女性的HDL-C和LDL-C水平在A等位基因携带者和非携带者之间存在差异（P<0.05-0.001），A等位基因携带者的LDL-C和TC水平高于A等位基因非携带者，HDL-C水平低于A等位基因非携带者。汉族和京族人群，或两个民族的男性和女性中，血脂性状也与几种环境因素有关。
本研究证明了SPTLC3 rs364585 SNP与本研究人群血清TC、HDL-C和LDL-C水平之间的关联。这些关联可能具有民族和/或性别特异性。
回顾性注册。
