目的:甘油三酯是导致动脉粥样硬化血脂异常(AD)的代谢变化的引发剂。APOA5和APOA1基因参与血清脂质和脂蛋白的反应和代谢,其中单核苷酸多态性(SNP)rs662799(启动子区域)和rs5070(内含子区域)与血脂异常的易感性有关。直到现在,在墨西哥儿童中,很少有研究评估这些多态性与高甘油三酯血症和AD的关系.因此,目的是在墨西哥东南部的一个儿科人群中,确定rs662799和rs5070与高甘油三酯血症和AD的相关性.
方法:进行病例对照分析,包括268名2-16岁的婴儿,人体测量学,临床变量,和血脂进行分析。从血液样品中提取DNA,并使用TaqManSNP基因分型测定法进行多态性的基因分型。计算等位基因和基因型频率。对于遗传关联分析,根据遗传模型拟合逻辑回归模型。
结果:SNPrs662799(C)与显性模型中的高甘油三酯血症(OR=3.89,p=0.001)和显性模型中的AD(OR=4.01,p=0.001)显著相关。在加性风险模型中,SNPrs5070(T)对高甘油三酯血症具有保护作用(OR=0.68,p=0.03)。
结论:多态性rs662799与墨西哥东南部未成年人的高甘油三酯血症和AD病例显著相关。另一方面,rs5070多态性与高甘油三酯血症或AD病例无关。
OBJECTIVE: Triglycerides are the initiators of the metabolic changes that lead to atherogenic dyslipidemia (AD). The APOA5 and APOA1 genes are involved in the response and metabolism of serum lipids and lipoproteins, where single nucleotide polymorphisms (SNP) rs662799 (promoter region) and rs5070 (intronic region) have been associated with the susceptibility to dyslipidemia. Until now, few studies evaluate the association of these polymorphisms with the presentation of hypertriglyceridemia and AD among Mexican children. Therefore, the objective was to determine the association between rs662799 and rs5070 with hypertriglyceridemia and AD in a pediatric population of southeastern Mexico.
METHODS: A case-control analysis was performed including 268 infants aged 2-16 years, anthropometric, clinical variables, and serum lipid profiles were analyzed. DNA was extracted from blood samples and genotyping of polymorphisms was executed with the TaqMan SNP genotyping assay. Allele and genotypic frequencies were calculated. For genetic association analysis, logistic regression models were fitted according to models of inheritance.
RESULTS: The SNP rs662799 (C) was significantly associated with hypertriglyceridemia in the overdominant model (OR=3.89, p=0.001) and AD in the dominant model (OR=4.01, p=0.001). The SNP rs5070 (T) has a protective effect against hypertriglyceridemia in the additive risk model (OR=0.68, p=0.03).
CONCLUSIONS: Polymorphism rs662799 was significantly associated with cases of hypertriglyceridemia and AD in minors in southeastern Mexico. On the other hand, rs5070 polymorphism was not associated with cases of hypertriglyceridemia or AD.