Salehi Samaneh, Emadi-Baygi Modjtaba, Rezaei Majdaddin, Kelishadi Roya, Nikpour Parvaneh
Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran.
Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran; Research Institute of Biotechnology, Shahrekord University, Shahrekord, Iran.
Adv Biomed Res. 2017 Mar 7;6:24. doi: 10.4103/2277-9175.201688. eCollection 2017.
Metabolic syndrome (MetS) is a common disorder which is a constellation of clinical features including abdominal obesity, increased level of serum triglycerides (TGs) and decrease of serum high-density lipoprotein-cholesterol (HDL-C), elevated blood pressure, and glucose intolerance. The apolipoprotein A5 (APOA5) is involved in lipid metabolism, influencing the level of plasma TG and HDL-C. In the present study, we aimed to investigate the associations between four INDEL variants of APOA5 gene and the MetS risk.
In this case-control study, we genotyped 116 Iranian children and adolescents with/without MetS by using Sanger sequencing method for these INDELs. Then, we explored the association of INDELs with MetS risk and their clinical components by logistic regression and one-way analysis of variance analyses.
We identified a novel insertion polymorphism, c. *282-283 insAG/c. *282-283 insG variant, which appears among case and control groups. rs72525532 showed a significant difference for TG levels between various genotype groups. In addition, there were significant associations between newly identified single-nucleotide polymorphism (SNP) and rs72525532 with MetS risk.
These results show that rs72525532 and the newly identified SNP may influence the susceptibility of the individuals to MetS.
代谢综合征（MetS）是一种常见疾病，是一组临床特征的集合，包括腹部肥胖、血清甘油三酯（TGs）水平升高、血清高密度脂蛋白胆固醇（HDL-C）降低、血压升高和葡萄糖耐量异常。载脂蛋白A5（APOA5）参与脂质代谢，影响血浆TG和HDL-C水平。在本研究中，我们旨在探讨APOA5基因的四个插入缺失变异与MetS风险之间的关联。
在这项病例对照研究中，我们采用桑格测序法对116名患有/未患有MetS的伊朗儿童和青少年进行了这些插入缺失的基因分型。然后，我们通过逻辑回归和单因素方差分析探讨了插入缺失与MetS风险及其临床组成部分之间的关联。
我们鉴定出一种新的插入多态性，即c.*282-283 insAG/c.*282-283 insG变异，在病例组和对照组中均有出现。rs72525532在不同基因型组之间的TG水平上显示出显著差异。此外，新鉴定的单核苷酸多态性（SNP）和rs72525532与MetS风险之间存在显著关联。
这些结果表明，rs72525532和新鉴定的SNP可能影响个体对MetS的易感性。
