Salehi Samaneh, Emadi-Baygi Modjtaba, Rezaei Majdaddin, Kelishadi Roya, Nikpour Parvaneh
Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran.
Research Institute of Biotechnology, Shahrekord University, Shahrekord, Iran.
Diabetes Metab J. 2018 Feb;42(1):74-81. doi: 10.4093/dmj.2018.42.1.74.
Metabolic syndrome (MetS) is a complex and multifactorial disorder characterized by insulin resistance, dyslipidaemia, hyperglycemia, abdominal obesity, and elevated blood pressure. The apolipoprotein A5 (APOA5) gene variants have been reported to correlate with two major components of MetS, including low levels of high density lipoprotein cholesterol (HDL-C) and high levels of triglyceride. In the present study, we explored the associations between five single nucleotide polymorphisms (SNPs) of APOA5 gene and the MetS risk.
In a case-control design, 120 Iranian children and adolescents with/without MetS were genotyped by polymerase chain reaction-sequencing for these SNPs. Then, we investigated the association of SNPs, individually or in haplotype constructs, with MetS risk.
The rs34089864 variant and H1 haplotype (harboring the two major alleles of rs619054 and rs34089864) were associated with HDL-C levels. However, there was no significant association between different haplotypes/individual SNPs and MetS risk.
These results presented no association of APOA5 3'UTR SNPs with MetS. Further studies, including other polymorphisms, are required to investigate the involvement of APOA5 gene in the genetic susceptibility to MetS in the pediatric age group.
代谢综合征（MetS）是一种复杂的多因素疾病，其特征为胰岛素抵抗、血脂异常、高血糖、腹部肥胖和血压升高。据报道，载脂蛋白A5（APOA5）基因变异与代谢综合征的两个主要成分相关，包括低水平的高密度脂蛋白胆固醇（HDL-C）和高水平的甘油三酯。在本研究中，我们探讨了APOA5基因的五个单核苷酸多态性（SNP）与代谢综合征风险之间的关联。
在病例对照设计中，对120名患有/未患有代谢综合征的伊朗儿童和青少年进行聚合酶链反应测序，以确定这些SNP的基因型。然后，我们分别或在单倍型构建体中研究SNP与代谢综合征风险的关联。
rs34089864变异和H1单倍型（包含rs619054和rs34089864的两个主要等位基因）与HDL-C水平相关。然而，不同单倍型/个体SNP与代谢综合征风险之间没有显著关联。
这些结果表明APOA5 3'UTR SNP与代谢综合征无关联。需要进一步的研究，包括其他多态性，来调查APOA5基因在儿童年龄组代谢综合征遗传易感性中的作用。
