Zhang Qing-Hui, Yin Rui-Xing, Huang Feng, Yang De-Zhai, Lin Wei-Xiong, Pan Shang-Ling
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning 530021, Guangxi, People's Republic of China.
Department of Molecular Genetics, Medical Scientific Research Center, Guangxi Medical University, Nanning 530021, Guangxi, People's Republic of China.
Oncotarget. 2017 Dec 9;8(69):114081-114094. doi: 10.18632/oncotarget.23123. eCollection 2017 Dec 26.
Jing nationality is a relatively conservative and isolated minority in China. Little is known about the association of the PIN2/TERF1-interacting telomerase inhibitor 1 () and N-acetyltransferase 2 () single nucleotide polymorphisms (SNPs) and serum lipid levels in the Chinese populations. This study aimed to clarify the association of 6 SNPs of the and and serum lipid levels in two Chinese populations. Genotyping of the SNPs was performed in 1236 Han subjects and 1248 Jing participants. Allelic and genotypic frequencies of these variants (except rs1799931) were different between the two ethnic groups. The minor allele carriers had higher triglyceride (TG, rs11776767, rs1495743 and rs1799930), low-density lipoprotein cholesterol (rs6601530) levels and the apolipoprotein (Apo)A1/ApoB ratio (rs1495743) in Han nationality; and higher total cholesterol (rs1961456), TG (rs11776767, rs6601530 and rs1495743) and lower ApoA1 (rs6601530 and rs1799931) levels in Jing minority than the minor allele non-carriers. The SNPs were not statistically independent by the multiple-locus linkage disequilibrium analyses. The integrative haplotypes and gene-by-gene (G × G) interactions on serum lipid traits were also observed in the two populations. Association analysis based on haplotypes and G × G interactions might be powerful than single-locus tests. Differences in serum lipid profiles between the two populations might partially be attributed to these SNPs, their haplotypes and G × G interactions.
京族是中国一个相对保守和隔离的少数民族。关于PIN2/TERF1相互作用端粒酶抑制剂1（）和N-乙酰转移酶2（）单核苷酸多态性（SNP）与中国人群血脂水平之间的关联知之甚少。本研究旨在阐明这两个基因的6个SNP与两个中国人群血脂水平的关联。对1236名汉族受试者和1248名京族参与者进行了SNP基因分型。这两个民族之间这些变异（除rs1799931外）的等位基因和基因型频率不同。在汉族中，次要等位基因携带者的甘油三酯（TG，rs11776767、rs1495743和rs1799930）、低密度脂蛋白胆固醇（rs6601530）水平以及载脂蛋白（Apo）A1/ApoB比值（rs1495743）较高；在京族中，次要等位基因携带者的总胆固醇（rs1961456）、TG（rs11776767、rs6601530和rs1495743）较高，而ApoA1（rs6601530和rs1799931）水平较低。通过多位点连锁不平衡分析，这些SNP在统计学上并非独立。在这两个人群中还观察到了血脂性状的综合单倍型和基因-基因（G×G）相互作用。基于单倍型和G×G相互作用的关联分析可能比单基因座检验更有效。两个人群之间血脂谱的差异可能部分归因于这些SNP、它们的单倍型以及G×G相互作用。
