Department of Clinical and Toxicological Analysis, Faculty of Pharmacy, Federal University of Minas Gerais, Antônio Carlos avenue, 6627, Belo Horizonte, MG 31270-901, Brazil.
Mol Biol Rep. 2011 Oct;38(7):4381-8. doi: 10.1007/s11033-010-0565-5. Epub 2010 Dec 4.
Apolipoprotein A5 (APOA5) and apolipoprotein E (APOE) play important roles in the metabolism of cholesterol and triglycerides. The aim of this study was to determine the allelic and genotypic distributions of the APOA5-1131T>C (rs 662799) and the APOE HhaI polymorphisms and to identify the association of both individual and combined APOA5-APOE genetic variants and the risk for dyslipidemia in children and adolescents. We genotyped 53 dyslipidemic and 77 normolipidemic individuals. The total cholesterol, triglycerides and HDL cholesterol were determined enzymatically. For APOA5 polymorphism, the presence of the allele C confers an individual risk for dyslipidemia (OR = 2.38, 95% CI = 1.15-4.89; P = 0.018). No significant differences were observed for lipid parameters among the APOA5 groups, except for a higher value of HDLc (P = 0.024) in C-carriers. The allelic and genotypic frequencies of APOE polymorphism were similar between groups and did not increase the susceptibility for dyslipidemia. None of the combined APOA5-APOE polymorphisms increased risk for dyslipidemia. We demonstrated an association between APOA5-1131T>C polymorphism and dyslipidemia in children and adolescents. This finding may be useful to guide new studies with genetic markers down a path toward a better characterization of the genetic risk factors for dyslipidemia and atherosclerotic diseases.
载脂蛋白 A5（APOA5）和载脂蛋白 E（APOE）在胆固醇和甘油三酯的代谢中发挥重要作用。本研究旨在确定 APOA5-1131T>C（rs662799）和 APOE HhaI 多态性的等位基因和基因型分布，并确定个体和联合 APOA5-APOE 遗传变异与儿童和青少年血脂异常风险的关系。我们对 53 名血脂异常和 77 名血脂正常的个体进行了基因分型。总胆固醇、甘油三酯和高密度脂蛋白胆固醇通过酶法测定。对于 APOA5 多态性，等位基因 C 的存在赋予个体血脂异常的风险（OR=2.38，95%CI=1.15-4.89；P=0.018）。除了 C 携带者的 HDLc 值更高（P=0.024）外，APOA5 各组之间的脂质参数没有差异。APOE 多态性的等位基因和基因型频率在各组之间相似，不会增加血脂异常的易感性。APOA5-APOE 联合多态性均未增加血脂异常的风险。我们证明了 APOA5-1131T>C 多态性与儿童和青少年血脂异常之间存在关联。这一发现可能有助于指导新的研究，利用遗传标记更好地阐明血脂异常和动脉粥样硬化疾病的遗传危险因素。
