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载脂蛋白A5基因IVS3+476A等位基因变异与甘油三酯水平升高相关,并使匈牙利人患代谢综合征的风险增加。

Apolipoprotein A5 IVS3+476A allelic variant associates with increased trigliceride levels and confers risk for development of metabolic syndrome in Hungarians.

作者信息

Kisfali Péter, Mohás Márton, Maasz Anita, Hadarits Ferenc, Markó Lajos, Horvatovich Katalin, Oroszlán Tamás, Bagosi Zoltán, Bujtor Zoltán, Gasztonyi Beáta, Wittmann István, Melegh Béla

机构信息

Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary.

出版信息

Circ J. 2008 Jan;72(1):40-3. doi: 10.1253/circj.72.40.

Abstract

BACKGROUND

Metabolic syndrome consists of multiple risk factors that are increasing the cardiovascular mortality. The T-1131C variant of the apolipoprotein A5 gene, associated with increased triglycerides, has been found to confer risk for cardiovascular diseases and metabolic syndrome. Because other naturally occurring variants of the gene also correlate with elevated triglycerides, the possible role of 2 common variants, the IVS3+G476A and T1259C, with metabolic syndrome was investigated.

METHODS AND RESULTS

A total of 213 metabolic syndrome patients and 142 healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism. Serum triglycerides were increased in carriers compared with non-carriers in both groups (p<0.001); serum cholesterol levels were similar in all genotypes. The IVS3+476A allele frequency was increased in metabolic syndrome patients compared with controls (8.05 vs 2.47%; p<0.05), whereas the 1259C allele frequency did not differ between the groups. Multiple logistic regression analyses adjusted for age, gender, serum total cholesterol, acute myocardial infarction and stroke revealed that the IVS3+476A variant confers risk for development of metabolic syndrome (odds ratio =3.529, 95% confidence interval 1.308-9.029, p=0.009), but the 1259C allele had no such an effect.

CONCLUSIONS

Carrying the IVS3+473A allele is associated with elevated triglycerides and confers risk for development of metabolic syndrome, a combination that represents increased risk for development of atherogenic vascular diseases.

摘要

背景

代谢综合征由多种增加心血管疾病死亡率的危险因素组成。载脂蛋白A5基因的T-1131C变异与甘油三酯升高相关,已被发现会增加患心血管疾病和代谢综合征的风险。由于该基因的其他自然发生变异也与甘油三酯升高相关,因此研究了两种常见变异IVS3+G476A和T1259C与代谢综合征的可能关系。

方法与结果

采用聚合酶链反应-限制性片段长度多态性方法对213例代谢综合征患者和142例健康对照者进行基因分型。两组中,携带者的血清甘油三酯水平均高于非携带者(p<0.001);所有基因型的血清胆固醇水平相似。与对照组相比,代谢综合征患者中IVS3+476A等位基因频率升高(8.05%对2.47%;p<0.05),而两组间1259C等位基因频率无差异。对年龄、性别、血清总胆固醇、急性心肌梗死和中风进行校正的多因素logistic回归分析显示,IVS3+476A变异会增加代谢综合征的发病风险(比值比=3.529,95%置信区间1.308-9.029,p=0.009),但1259C等位基因无此作用。

结论

携带IVS3+473A等位基因与甘油三酯升高有关,并会增加代谢综合征的发病风险,而代谢综合征是动脉粥样硬化性血管疾病发病风险增加的一种组合。

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