A new clinical screening strategy and prevalence estimation for glucokinase variant-induced diabetes in an adult Chinese population

作者：Ma, Yumin; Han, Xueyao^*; Zhou, Xianghai; Li, Yufeng; Gong, Siqian; Zhang, Simin; Cai, Xiaoling; Zhou, Lingli; Luo, Yingying; Li, Meng; Liu, Wei; Zhang, Xiuying; Ren, Qian; Ji, Linong^*

来源：Genetics in Medicine, 2019, 21(4): 939-947.

DOI：10.1038/s41436-018-0282-3

• MODY
• GCK
• prevalence
• type 2 diabetes
• prediabetes

Purpose: To estimate the prevalence of glucokinase variant-induced diabetes (GCK-DM) in a general population and to establish a clinical strategy for identifying GCK-DM from type 2 diabetes (T2DM). @@@ Methods: A population-based study of diabetes in a rural region of Beijing, China, was conducted using two-stage stratified random cluster sampling. The glucokinase exons were sequenced in patients with diabetes. @@@ Results: A total of 3345 subjects, including 545 patients with diabetes, participated in this study. Seven patients with GCK-DM were identified. The estimated prevalence rates of GCK-DM were 0.21% and 1.3% in the whole population and the diabetic patients, respectively. In the newly diagnosed diabetic patients (New-DM), a triglyceride cutoff <= 1.43 mmol/L (126.55 mg/dl) could discriminate GCK-DM from T2DM with 100% sensitivity and 68.4% specificity. Its effectiveness was confirmed in an additional 134 early-onset young patients with T2DM and mild hyperglycemia. A clinical criterion based on triglyceride and mild hyperglycemia could differentiate GCK-DM from T2DM in New-DM and was shown to be effective in identifying GCK-DM from 559 early-onset young patients with T2DM in the hospital. @@@ Conclusions: The prevalence of GCK-DM is approximately 1.3% in the Chinese population with diabetes, and the new clinical screening strategy is helpful for identifying GCK-DM.

• 出版日期2019-4
• 单位北京大学