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血管内皮生长因子基因的启动子多态性与韩国人代谢综合征易感性相关。

Promoter polymorphisms of the vascular endothelial growth factor gene are associated with metabolic syndrome susceptibility in Koreans.

作者信息

Kim Young Ree, Hong Seung-Ho

机构信息

Department of Laboratory Medicine, School of Medicine, Jeju National University, Jeju 63243, Republic of Korea.

Department of Science Education, Teachers College, Jeju National University, Jeju 63294, Republic of Korea.

出版信息

Biomed Rep. 2017 May;6(5):555-560. doi: 10.3892/br.2017.886. Epub 2017 Apr 7.

Abstract

Vascular endothelial growth factor (VEGF) is a potent regulator of angiogenesis. Patients with metabolic syndrome (MetS) have elevated plasma VEGF levels. The aim of the present study was to investigate the association between promoter polymorphisms (the -2578C>A and -1154G>A) of the gene and MetS susceptibility. A total of 640 subjects were enrolled in the study including 320 patients with MetS and 320 healthy controls. Genotyping of the single nucleotide polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism analysis. The CA and AA genotypes of the -2578C>A polymorphism were associated with decreased risk of MetS (P=0.018, P=0.003, respectively). For the -1154G>A polymorphism, although the GA genotype was more significantly frequent in MetS patients (P=0.022), the AA genotype and recessive model (GG+GA vs. AA) were protective against MetS susceptibility (P=0.016, 0.007, respectively). The A-G haplotype frequency composed of the -2578C>A and -1154G>A polymorphisms also differed between the 2 groups (P=0.011). The presented data suggested that the A alleles and A-G haplotype of the -2578C>A and -1154G>A polymorphisms are associated with decreased MetS susceptibility. To the best of the authors' knowledge, the current study is the first to investigate the associations between the -2578C>A and -1154G>A polymorphisms and MetS patients. Further evaluation is necessary to explore the associations between the polymorphisms and MetS patients in larger samples of other ethnic or racial populations.

摘要

血管内皮生长因子(VEGF)是血管生成的一种有效调节因子。代谢综合征(MetS)患者的血浆VEGF水平升高。本研究的目的是调查该基因启动子多态性(-2578C>A和-1154G>A)与MetS易感性之间的关联。共有640名受试者参与了本研究,其中包括320例MetS患者和320名健康对照。通过聚合酶链反应-限制性片段长度多态性分析对该单核苷酸多态性进行基因分型。-2578C>A多态性的CA和AA基因型与MetS风险降低相关(分别为P=0.018,P=0.003)。对于-1154G>A多态性,尽管GA基因型在MetS患者中更为常见(P=0.022),但AA基因型和隐性模型(GG+GA与AA)对MetS易感性具有保护作用(分别为P=0.016,0.007)。由-2578C>A和-1154G>A多态性组成的A-G单倍型频率在两组之间也存在差异(P=0.011)。所呈现的数据表明,-2478C>A和-1154G>A多态性的A等位基因和A-G单倍型与MetS易感性降低相关。据作者所知,本研究是首次调查-2578C>A和-1154G>A多态性与MetS患者之间的关联。有必要进行进一步评估,以在其他种族或民族的更大样本中探索这些多态性与MetS患者之间的关联。

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