神经生成素3的基因变异与高胰岛素原血症及向2型糖尿病的进展略有关联。
Genetic variation of Neurogenin 3 is slightly associated with hyperproinsulinaemia and progression toward type 2 diabetes.
作者信息
Li J, Bergmann A, Reimann M, Schulze J, Bornstein S R, Schwarz P E H
机构信息
Department of Endocrinopathies and Metabolic Diseases, Medical Faculty Carl-Gustav-Carus of the Technical University Dresden, Dresden, Germany.
出版信息
Exp Clin Endocrinol Diabetes. 2008 Mar;116(3):178-83. doi: 10.1055/s-2007-992156. Epub 2007 Oct 12.
OBJECTIVE
Transcription factor Neurogenin 3 (NGN3) is considered as a candidate gene for the development of type 2 diabetes. The aim of the current study was to investigate the relevance of NGN3 variants for the clinical spectrum of diabetes development and disease progressions.
RESEARCH DESIGN AND METHODS
A total of 552 subjects with increased risk of type 2 diabetes were investigated. They underwent a 75 g OGTT with measurements of plasma glucose, insulin and proinsulin at fasting and at 30, 60, 90 and 120 minutes after the glucose challenge, repeated after 3 years. The NGN3 SNPs, Gly167Arg and Ser199Phe were genotyped.
RESULT
Patients with type 2 diabetes carrying the variant genotype at SNP199 presented with significantly higher proinsulin levels. Proinsulin level was also associated with progression of diabetes mellitus. There was a discrete association of the Ser199Phe variant with evolution of the disease status.
CONCLUSION
A genetic variation in NGN3 gene may be among the genetic determinants involved in the pathogenesis of diabetes.
目的
转录因子神经生成素3（NGN3）被认为是2型糖尿病发生的候选基因。本研究的目的是调查NGN3基因变异与糖尿病发生发展及疾病进展临床谱的相关性。
研究设计与方法
共调查了552名2型糖尿病风险增加的受试者。他们接受了75克口服葡萄糖耐量试验（OGTT），在空腹及葡萄糖负荷后30、60、90和120分钟测量血浆葡萄糖、胰岛素和胰岛素原水平，3年后重复进行。对NGN3单核苷酸多态性（SNP）Gly167Arg和Ser199Phe进行基因分型。
结果
携带SNP199变异基因型的2型糖尿病患者胰岛素原水平显著更高。胰岛素原水平也与糖尿病进展相关。Ser199Phe变异与疾病状态演变存在离散关联。
结论
NGN3基因的遗传变异可能是参与糖尿病发病机制的遗传决定因素之一。
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