Chien Kuo-Liong, Chen Ming-Fong, Hsu Hsiu-Ching, Su Ta-Chen, Chang Wei-Tien, Lee Chii-Ming, Lee Yuan-Teh
Institute of Preventive Medicine, School of Public Health, National Taiwan University, Taiwan.
Clin Chim Acta. 2008 Feb;388(1-2):78-83. doi: 10.1016/j.cca.2007.10.006. Epub 2007 Oct 11.
Polymorphism of apolipoprotein A1/C3/A4/A5 gene cluster affected lipid profiles in general population. We reported 6 polymorphisms, APOA1 -75G>A, APOA1 83C>T, APOC3 3175C>G, APOC3 3206G>T, APOA4 127A>G, and APOA5 553G>T in APOA1/C3/A4/A5 gene and the haplotype structures on triglyceride and HDL traits among ethnic Chinese.
Overall, there were statistically significant differences in the distribution of APOA1 -75G>A and APOA5 +553G>T genotypes comparing cases with control subjects. For the APOA1 -75 SNP, a lower risk of triglyceride/HDL among subjects with A/A genotype compared with those with the G/G genotype (odds ratio, OR=0.39, 95% CI 0.16-0.92, P=0.04). However, the risk magnitude reduced after multivariate adjustments. For continuous traits, we found that only in APOA5 +553 T allele carriers showed a significant higher triglyceride and a significant lower HDL cholesterol level than subjects with APOA5 +553 G/G genotypes. There were significant differences in overall haplotype frequencies between case and control subjects (P<0.001).
There is an important role of APOA1/C3/A4/A5 gene polymorphisms and haplotypes in the development of high triglyceride/HDL ratio in Chinese.
载脂蛋白A1/C3/A4/A5基因簇的多态性影响普通人群的血脂谱。我们报道了载脂蛋白A1/C3/A4/A5基因中的6种多态性，即APOA1 -75G>A、APOA1 83C>T、APOC3 3175C>G、APOC3 3206G>T、APOA4 127A>G和APOA5 553G>T，以及华裔人群中甘油三酯和高密度脂蛋白性状的单倍型结构。
总体而言，比较病例组与对照组，APOA1 -75G>A和APOA5 +553G>T基因型的分布存在统计学显著差异。对于APOA1 -75单核苷酸多态性，与G/G基因型的受试者相比，A/A基因型的受试者甘油三酯/高密度脂蛋白风险较低（优势比，OR = 0.39，95%置信区间0.16 - 0.92，P = 0.04）。然而，多变量调整后风险幅度降低。对于连续性性状，我们发现只有APOA5 +553 T等位基因携带者的甘油三酯水平显著高于APOA5 +553 G/G基因型的受试者，高密度脂蛋白胆固醇水平显著低于后者。病例组与对照组之间的总体单倍型频率存在显著差异（P < 0.001）。
APOA1/C3/A4/A5基因多态性和单倍型在中国人群高甘油三酯/高密度脂蛋白比值的发生发展中起重要作用。
