Department of Medical Genetics, Gazi University Faculty of Medicine, Besevler, Ankara, Turkey.
Biochem Genet. 2011 Feb;49(1-2):1-8. doi: 10.1007/s10528-010-9376-6. Epub 2010 Sep 7.
Diabetes mellitus is a multifactorial metabolic disease, caused by the complete or relative absence of insulin hormone, which results in the deterioration of carbohydrate, protein, and lipid metabolism. The PON1 55 and 192 polymorphisms have been reported to be associated with type 2 diabetes and its complications. In this study, the involvement of the PON1 55 and 192 polymorphisms and paraoxonase enzyme activity in diabetic complications was assessed. The MM and QQ genotypes were the most frequent in complications of type 2 diabetes in both of the polymorphisms. PON enzyme activity was lower in the type 2 diabetes group with respect to the control group. Regarding both genotypes and enzyme activity, correlations were found between the PON1 55 and 192 genotypes and diabetic complications. This study thus helps to outline a genotype-phenotype relation for the PON1 gene in a Turkish population.
糖尿病是一种多因素代谢疾病,由胰岛素激素的完全或相对缺乏引起,导致碳水化合物、蛋白质和脂质代谢恶化。PON1 55 和 192 多态性已被报道与 2 型糖尿病及其并发症有关。在这项研究中,评估了 PON1 55 和 192 多态性和对氧磷酶酶活性与糖尿病并发症的关系。在两种多态性中,MM 和 QQ 基因型在 2 型糖尿病并发症中最为常见。与对照组相比,2 型糖尿病组的 PON 酶活性较低。关于两种基因型和酶活性,发现 PON1 55 和 192 基因型与糖尿病并发症之间存在相关性。因此,这项研究有助于在土耳其人群中概述 PON1 基因的基因型-表型关系。