Guangzhou no. 12 Hospital, Guangzhou, China.
Eur J Hum Genet. 2010 Nov;18(11):1255-60. doi: 10.1038/ejhg.2010.93. Epub 2010 Jun 23.
Single nucleotide polymorphisms (SNPs) in the apolipoprotein A5 (APOA5) gene have been associated with hypertriglyceridaemia. We investigated which SNPs in the APOA5 gene were associated with triglyceride levels in two independent Chinese populations. In all, 1375 subjects in the Hong Kong Cardiovascular Risk Factor Prevalence Study were genotyped for five tagging SNPs chosen from HapMap. Replication was sought in 1996 subjects from the Guangzhou Biobank Cohort Study. Among the five SNPs, rs662799 (-1131T>C) was strongly related to log-transformed triglyceride levels among Hong Kong subjects (β=0.192, P=2.6 × 10(-13)). Plasma triglyceride level was 36.1% higher in CC compared to TT genotype. This association was confirmed in Guangzhou subjects (β=0.159, P=1.3 × 10(-12)), and was significantly irrespective of sex, age group, obesity, metabolic syndrome, hypertension, diabetes, smoking and alcohol drinking. The odds ratios and 95% confidence interval for plasma triglycerides ≥1.7 mmol/l associated with TC and CC genotypes were, respectively, 1.81 (1.37-2.39) and 2.22 (1.44-3.43) in Hong Kong and 1.27 (1.05-1.54) and 1.97 (1.42-2.73) in Guangzhou. Haplotype analysis suggested the association was due to rs662799 only. The corroborative findings in two independent populations indicate that the APOA5-1131T>C polymorphism is an important and clinically relevant determinant of plasma triglyceride levels in the Chinese population.
载脂蛋白 A5(APOA5)基因中的单核苷酸多态性(SNPs)与高甘油三酯血症有关。我们研究了 APOA5 基因中的哪些 SNPs 与两个独立的中国人群的甘油三酯水平相关。在香港心血管风险因素流行研究中,共有 1375 名受试者对从 HapMap 中选择的 5 个标记 SNPs 进行了基因分型。在广州生物库队列研究中,对 1996 名受试者进行了复制。在这 5 个 SNP 中,rs662799(-1131T>C)与香港受试者的对数转换甘油三酯水平密切相关(β=0.192,P=2.6×10(-13))。与 TT 基因型相比,CC 基因型的血浆甘油三酯水平高 36.1%。这一关联在广州受试者中得到了证实(β=0.159,P=1.3×10(-12)),并且无论性别、年龄组、肥胖、代谢综合征、高血压、糖尿病、吸烟和饮酒如何,这种关联都是显著的。与 TC 和 CC 基因型相关的血浆甘油三酯≥1.7mmol/l 的比值比和 95%置信区间分别为香港的 1.81(1.37-2.39)和 2.22(1.44-3.43),以及广州的 1.27(1.05-1.54)和 1.97(1.42-2.73)。单体型分析表明,这种关联仅归因于 rs662799。两个独立人群的一致发现表明,APOA5-1131T>C 多态性是中国人群血浆甘油三酯水平的一个重要且具有临床相关性的决定因素。