Liu Jingjin, Cao Renjun, Li Dewei, Miao Fang, Yang Ping An, He Hui, Yu Han, Zhang Xiang, Qin Jie, Yang Yanlan
Endocrinology, Shanxi Provincial People's Hospital, Taiyuan, China.
Endocrinology, Heji Hospital affiliated to Changzhi Medical College, Changzhi, China.
Clin Invest Med. 2022 Dec 31;45(4):E33-38. doi: 10.25011/cim.v45i4.39273.
To determine correlation between genetic susceptibility of type 2 diabetes mellitus (T2DM) and Src homology 2 B adapter protein 1 (SH2B1) gene polymorphism in a diabetic population. Methods: A total of 111 T2DM patients (DM group) and 34 healthy controls (NC group) from Shanxi Provincial People's Hospital were included in this study. Exon 9 of the SH2B1 gene was detected using the Sanger sequencing method, and the relationship between SH2B1 gene polymorphism and diabetes was analyzed. Results: Comparison of the data between the two groups showed that the values of TG, the updated HOMA of insulin resistance (HOMA2-IR), weight, body mass index, waist circumference, fasting blood glucose and fasting insulin levels of the DM group were higher than those of the NC group (P < 0.05). The HOMA2 insulin sensitivity (%S) of the DM group was lower than that of the NC group (P < 0.05). Sequencing analysis revealed that the following five single nucleotide polymorphisms in exon 9 of SH2B1 may be related to T2DM: rs181578610, rs550079240, chr16.28884655, chr16.28884659 and chr16.28884831. Among them, chr16.28884655 was found to be significantly related to diabetes; this site, located on the NM_015503 exon, was related to TG, LDL-C and waist circumference.
The SH2B1 gene locus chr16.28884655 was found to be significantly related to genetic susceptibility to T2DM.
确定糖尿病群体中2型糖尿病（T2DM）的遗传易感性与Src同源2B衔接蛋白1（SH2B1）基因多态性之间的相关性。方法：本研究纳入了山西省人民医院的111例T2DM患者（糖尿病组）和34例健康对照者（正常对照组）。采用桑格测序法检测SH2B1基因的第9外显子，并分析SH2B1基因多态性与糖尿病之间的关系。结果：两组数据比较显示，糖尿病组的甘油三酯（TG）、更新的胰岛素抵抗稳态模型评估（HOMA2-IR）、体重、体重指数、腰围、空腹血糖和空腹胰岛素水平均高于正常对照组（P<0.05）。糖尿病组的HOMA2胰岛素敏感性（%S）低于正常对照组（P<0.05）。测序分析显示，SH2B1基因第9外显子中的以下5个单核苷酸多态性可能与T2DM相关：rs181578610、rs550079240、chr16.28884655、chr16.28884659和chr16.28884831。其中，发现chr16.28884655与糖尿病显著相关；该位点位于NM_015503外显子上，与TG、低密度脂蛋白胆固醇（LDL-C）和腰围有关。结论：发现SH2B1基因位点chr16.28884655与T2DM的遗传易感性显著相关。
