Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University , Riyadh, Saudi Arabia .
DNA Cell Biol. 2014 Sep;33(9):637-41. doi: 10.1089/dna.2014.2461. Epub 2014 Jun 30.
Type 2 diabetes mellitus (T2DM) is a common chronic metabolic disorder characterized by persistent hyperglycemia. It is considered to be a major risk factor for obesity and cardiovascular diseases. The cause of T2DM is likely due to a complex interaction between genetic and environmental factors. Apolipoprotein E (ApoE) gene plays a key role in lipid metabolism. The aim of this contemporary study was to investigate the ApoE polymorphism in a Saudi population with T2DM subjects. Two common single-nucleotide polymorphisms, that is, rs429358 and rs7412, in the ApoE gene were genotyped by TaqMan assay in T2DM patients (n=438) and controls (n=460). The results of the present study indicate that ApoE polymorphism was significantly associated with T2DM in a Saudi population with the ɛ2 and ɛ4 alleles (p=0.0001). We found statistically significant difference in the genotype distribution between T2DM patients and controls [for E4/E4: OR, 4.39 (95% CI: 2.16-8.92); p=0.0001]. A significant difference was observed in the lipid profile parameters, like triglycerides, low-density lipoprotein, and ApoE alleles (p=0.0001). Further studies are carried out in a Saudi population with different diseases to confirm the risk allele. In conclusion, our study results suggest that ApoE variants constitute risk markers of T2DM in a Saudi population.
2 型糖尿病（T2DM）是一种常见的慢性代谢紊乱，其特征是持续性高血糖。它被认为是肥胖和心血管疾病的主要危险因素。T2DM 的病因可能是遗传和环境因素之间的复杂相互作用。载脂蛋白 E（ApoE）基因在脂质代谢中起关键作用。本当代研究旨在调查 T2DM 患者中沙特人群的 ApoE 多态性。通过 TaqMan 检测在 T2DM 患者（n=438）和对照组（n=460）中检测 ApoE 基因的两个常见单核苷酸多态性，即 rs429358 和 rs7412。本研究结果表明，ApoE 多态性与沙特人群中的 T2DM 显著相关，携带 ɛ2 和 ɛ4 等位基因（p=0.0001）。我们发现 T2DM 患者和对照组之间在基因型分布上存在统计学显著差异[对于 E4/E4：OR，4.39（95% CI：2.16-8.92）；p=0.0001]。在血脂谱参数方面，如甘油三酯、低密度脂蛋白和 ApoE 等位基因方面，观察到显著差异（p=0.0001）。在不同疾病的沙特人群中进行了进一步的研究，以确认风险等位基因。总之，我们的研究结果表明，ApoE 变体构成了沙特人群中 T2DM 的风险标志物。
