Xu Jing, Zhang Wei, Song Wei, Cui Jiaqi, Tian Yanni, Chen Huan, Huang Pan, Yang Shujun, Wang Lu, He Xin, Wang Lin, Shi Bingyin, Cui Wei
Department of Endocrinology and Second Department of Geriatrics, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, People's Republic of China.
Department of Breast Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, People's Republic of China.
Pharmgenomics Pers Med. 2021 Dec 31;14:1731-1751. doi: 10.2147/PGPM.S340813. eCollection 2021.
This study aimed to explore the relationship between KCNQ1 polymorphism and type 2 diabetes mellitus (T2DM) risk in the population of Northwest China.
Case-control strategy was used to reveal the correlation between polymorphism and T2DM risk, and MDR analysis clarified the influence of polymorphism interaction on T2DM risk. The related proteins, functions, and signal pathways of were further explored through bioinformatics methods. PCR was used to explore the relative expression of in T2DM patients and the controls.
Studies showed that rs163177, rs163184, rs2237895 and rs2283228 on the gene are closely related to the risk of T2DM in Northwest China. MDR results showed that the three-locus model is the best model for T2DM risk assessment, which increases the risk of T2DM. The bioinformatics results showed that closely-acted proteins are mainly involved in signal pathways such as gastric acid secretion and renin secretion. The PCR results showed that, compared with the controls, the expression of was up-regulated in T2DM patients.
The results revealed that polymorphism is related to the risk of T2DM in the population of Northwest China and provide a scientific basis for the early screening and prevention of T2DM high-risk populations.
本研究旨在探讨中国西北地区人群中KCNQ1基因多态性与2型糖尿病（T2DM）风险之间的关系。
采用病例对照策略揭示基因多态性与T2DM风险之间的相关性，多因素降维分析（MDR）阐明基因多态性相互作用对T2DM风险的影响。通过生物信息学方法进一步探索相关蛋白质、功能及信号通路。采用聚合酶链反应（PCR）检测T2DM患者和对照中相关基因的相对表达。
研究表明，该基因上的rs163177、rs163184、rs2237895和rs2283228与中国西北地区T2DM风险密切相关。MDR结果显示，三位点模型是评估T2DM风险的最佳模型，会增加T2DM风险。生物信息学结果表明，紧密作用的蛋白质主要参与胃酸分泌和肾素分泌等信号通路。PCR结果显示，与对照相比，T2DM患者中相关基因的表达上调。
结果表明该基因多态性与中国西北地区人群T2DM风险相关，为T2DM高危人群的早期筛查和预防提供了科学依据。
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