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载脂蛋白 A5 基因 -1131T>C 多态性与巴西人群血脂异常相关。

The polymorphism -1131T>C in apolipoprotein A5 gene is associated with dyslipidemia in Brazilian subjects.

机构信息

Setor de Patologia Clínica, Colégio Técnico, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

出版信息

Gene. 2013 Mar 1;516(1):171-5. doi: 10.1016/j.gene.2012.12.016. Epub 2012 Dec 22.

Abstract

BACKGROUND

Polymorphisms in apolipoprotein A5 gene (APOA5) have been associated with higher triglyceride levels in many populations. The aim of the study was to determine the allelic and genotypic distribution of the APOA5 -1131T>C polymorphism and to identify the association of the genetic variant and the risk for dyslipidemia.

METHODS

We genotyped 109 dyslipidemic subjects and 107 controls. The total cholesterol, triglycerides and HDL-c were determined enzymatically. Comparison of means among groups was calculated by ANOVA. Significant differences among groups were evaluated by Student-Newman-Keuls test.

RESULTS

The minor allele C was more frequent in dyslipidemic subjects than controls (p=0.019) and confers an increased individual risk for dyslipidemia (OR=1.726, CI 95%=1.095-2.721). The genotype analysis by gender showed that this allele was more frequent in dyslipidemic males (p=0.037; OR=2.050, CI 95%=1.042-4.023). When participants were analyzed according to genotypes TT and TC/CC, C-carriers presented higher cholesterol and triglycerides levels than TT homozygous (p=0.046 and 0.049, respectively).

CONCLUSIONS

The allele C confers higher total cholesterol and triglycerides levels in dyslipidemic adults. The APOA5 -1131T>C polymorphism is associated with dyslipidemia in male subjects.

摘要

背景

载脂蛋白 A5 基因(APOA5)中的多态性与许多人群中的甘油三酯水平升高有关。本研究的目的是确定 APOA5-1131T>C 多态性的等位基因和基因型分布,并确定遗传变异与血脂异常的风险之间的关联。

方法

我们对 109 名血脂异常患者和 107 名对照者进行了基因分型。采用酶法测定总胆固醇、甘油三酯和高密度脂蛋白胆固醇。通过方差分析比较组间均值。通过 Student-Newman-Keuls 检验评估组间的显著差异。

结果

血脂异常患者中较小的等位基因 C 比对照组更频繁(p=0.019),并增加了个体患血脂异常的风险(OR=1.726,95%CI=1.095-2.721)。按性别进行基因型分析表明,该等位基因在血脂异常男性中更为常见(p=0.037;OR=2.050,95%CI=1.042-4.023)。当根据 TT 和 TC/CC 基因型对参与者进行分析时,C 携带者的胆固醇和甘油三酯水平高于 TT 纯合子(p=0.046 和 0.049)。

结论

等位基因 C 使血脂异常成年人的总胆固醇和甘油三酯水平升高。APOA5-1131T>C 多态性与男性血脂异常有关。

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