韩国人群中载脂蛋白A5基因多态性与代谢综合征的关联。
Association of Apolipoprotein A5 Gene Polymorphisms with Metabolic Syndrome in the Korean Population.
作者信息
Kim Young Ree, Hong Seung-Ho
机构信息
1 Department of Laboratory Medicine, School of Medicine, Jeju National University , Jeju, Republic of Korea.
2 Department of Science Education, Teachers College, Jeju National University , Jeju, Republic of Korea.
出版信息
Genet Test Mol Biomarkers. 2016 Mar;20(3):130-6. doi: 10.1089/gtmb.2015.0250. Epub 2016 Jan 13.
AIMS
Functional defects of the ApoA5 protein have been identified as risk factors for hypertriglyceridemia, vascular diseases and susceptibility to metabolic syndrome (MetS). These associations are neither strong nor consistent in all populations studied. In this study, we investigated the association between the ApoA5 -1131T>C and -12,238T>C polymorphic loci in Korean patients with MetS.
METHODS
A total of 1074 subjects, including 415 patients with MetS and 659 healthy control subjects, were enrolled to investigate the affect of ApoA5 polymorphisms on risk of MetS. Genotyping of the ApoA5 polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism techniques.
RESULTS
The CC genotype and the dominant (TT vs. TC+CC) and recessive (TT+TC vs. CC) models of the -1131T>C polymorphism were associated with increased MetS susceptibility (p < 0.001, p = 0.018, and p = 0.002, respectively). The association was male-specific when stratified by gender. With regard to the -12,238T>C polymorphism, the TC and CC genotypes and the dominant (TT vs. TC+CC) and recessive (TT+TC vs. CC) models were frequently found in the patient group, compared with the control group (p = 0.001, p < 0.001, p < 0.001, and p = 0.031, respectively). The T-C, C-T, and C-C haplotypes of the ApoA5 -1131T>C and -12,238T>C polymorphisms were associated with an increased risk for MetS (p < 0.001, p = 0.001, and p < 0.001, respectively). The variant of the ApoA5 -1131T>C polymorphism was also associated with increased triglyceride (TG) levels. Dominant models of ApoA5 -1131T>C and -12,238T>C polymorphisms were associated with the risk components of MetS by the stratification analysis.
CONCLUSION
The -1131C and -12,238C variants and the C-containing haplotypes of ApoA5 -1131T>C and -12,238T>C polymorphisms were associated with higher risk for MetS in the Korean population. The -1131C variant was also associated with the increased level of TG.
目的
已确定载脂蛋白A5（ApoA5）蛋白的功能缺陷是高甘油三酯血症、血管疾病和代谢综合征（MetS）易感性的危险因素。在所有研究人群中，这些关联既不强烈也不一致。在本研究中，我们调查了韩国MetS患者中ApoA5 -1131T>C和-12,238T>C多态性位点之间的关联。
方法
共纳入1074名受试者，包括415例MetS患者和659名健康对照受试者，以研究ApoA5基因多态性对MetS风险的影响。采用聚合酶链反应-限制性片段长度多态性技术对ApoA5基因多态性进行基因分型。
结果
-1131T>C多态性的CC基因型以及显性（TT与TC+CC相比）和隐性（TT+TC与CC相比）模型与MetS易感性增加相关（分别为p < 0.001、p = 0.018和p = 0.002）。按性别分层时，该关联具有男性特异性。关于-12,238T>C多态性，与对照组相比，患者组中TC和CC基因型以及显性（TT与TC+CC相比）和隐性（TT+TC与CC相比）模型更为常见（分别为p = 0.
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