Endo Kazue, Yanagi Hisako, Araki Jungo, Hirano Chiaki, Yamakawa-Kobayashi Kimiko, Tomura Shigeo
Department of Medical Science and Welfare, Institute of Community Medicine, University of Tsukuba, Tennoudai 1-1-1, Tsukuba-shi, Ibaraki-ken 305-8575, Japan.
Hum Genet. 2002 Dec;111(6):570-2. doi: 10.1007/s00439-002-0825-0. Epub 2002 Sep 11.
The purpose of this study was to assess the influence of single nucleotide polymorphism 3 (SNP3) of the apolipoprotein A-V ( APOA5) gene on the serum triglyceride (TG) level in Japanese schoolchildren. To determine the frequency of the genotype, we analyzed 552 schoolchildren. The frequencies of the T/T, T/C and C/C genotypes of the APOA5 gene were 225 (40.8%), 263 (47.6%) and 64 (11.6%), respectively. The serum TG level was significantly different among the genotypic groups after adjustments for age, gender and obesity index (T/T 71.6+/-34.8 mg/dl, T/C 80.7+/-36.1 mg/dl, C/C 94.4+/-69.4 mg/dl, P<0.0001). The odds ratio (95% confidence interval) for hypertriglyceridemia of the C allele was 2.4 (1.0-6.2). Our data suggested that the T/C promoter region polymorphism of the APOA5 gene appears to be a genetic risk factor for hypertriglyceridemia in Japanese children.
本研究旨在评估载脂蛋白A-V（APOA5）基因的单核苷酸多态性3（SNP3）对日本学龄儿童血清甘油三酯（TG）水平的影响。为确定基因型频率，我们分析了552名学龄儿童。APOA5基因的T/T、T/C和C/C基因型频率分别为225（40.8%）、263（47.6%）和64（11.6%）。在对年龄、性别和肥胖指数进行校正后，各基因型组的血清TG水平存在显著差异（T/T 71.6±34.8mg/dl，T/C 80.7±36.1mg/dl，C/C 94.4±69.4mg/dl，P<0.0001）。C等位基因导致高甘油三酯血症的优势比（95%置信区间）为2.4（1.0 - 6.2）。我们的数据表明，APOA5基因的T/C启动子区域多态性似乎是日本儿童高甘油三酯血症的一个遗传危险因素。
