Association of rs662799 and rs5070 genetic polymorphisms with hypertriglyceridemia and atherogenic dyslipidemia in pediatric patients in Southeast Mexico

Valeria Ovando Gómez , Soraya Amalí Zavaleta Muñiz , Héctor Ochoa-Díaz-López , José Armando Camilo Hernández Contreras , Cesar Antonio Irecta Nájera
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Abstract

Background and aims

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.

Materials and 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).

Conclusion

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.

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rs662799和rs5070基因多态性与墨西哥东南部儿童高甘油三酯血症和动脉粥样硬化性血脂异常的关系
背景和目的甘油三酯是导致动脉粥样硬化性血脂异常(AD)的代谢变化的始作俑者。APOA5和APOA1基因参与血脂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)和rs5070(内含子区)与血脂异常的易感性有关。到目前为止,很少有研究评估这些多态性与墨西哥儿童高甘油三酯血症和AD的相关性。因此,目的是确定rs662799和rs5070与墨西哥东南部儿科人群中高甘油三酯血症和AD之间的关系。材料和方法进行了病例-对照分析,包括268名2-16岁的婴儿,分析了人体测量、临床变量和血脂谱。从血液样本中提取DNA,并用TaqMan SNP基因分型分析进行多态性基因分型。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SNP rs662799(C)在超敏模型中与高甘油三酯血症显著相关(OR=3.89,p=0.001),在显性模型中与AD显著相关(OR=4.01,p=0.001)。SNP rs5070(T)在加性风险模型中对高甘油三酯血症具有保护作用(OR=0.68,p=0.03)墨西哥东南部未成年人的高甘油三酯血症和AD。另一方面,rs5070多态性与高甘油三酯血症或AD病例无关。
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