Relationship Between KCNQ1 Polymorphism and Type 2 Diabetes Risk in Northwestern China.

Pharmacogenomics and Personalized Medicine Pub Date : 2021-12-31 eCollection Date: 2021-01-01 DOI:10.2147/PGPM.S340813
Jing Xu, Wei Zhang, Wei Song, Jiaqi Cui, Yanni Tian, Huan Chen, Pan Huang, Shujun Yang, Lu Wang, Xin He, Lin Wang, Bingyin Shi, Wei Cui
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引用次数: 1

Abstract

Purpose: This study aimed to explore the relationship between KCNQ1 polymorphism and type 2 diabetes mellitus (T2DM) risk in the population of Northwest China.

Patients and methods: Case-control strategy was used to reveal the correlation between KCNQ1 polymorphism and T2DM risk, and MDR analysis clarified the influence of KCNQ1 polymorphism interaction on T2DM risk. The related proteins, functions, and signal pathways of KCNQ1 were further explored through bioinformatics methods. PCR was used to explore the relative expression of KCNQ1 in T2DM patients and the controls.

Results: Studies showed that rs163177, rs163184, rs2237895 and rs2283228 on the KCNQ1 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 KCNQ1 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 KCNQ1 was up-regulated in T2DM patients.

Conclusion: The results revealed that KCNQ1 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.

Abstract Image

Abstract Image

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中国西北地区KCNQ1多态性与2型糖尿病风险的关系
目的:探讨西北地区人群KCNQ1多态性与2型糖尿病(T2DM)发病风险的关系。患者和方法:采用病例对照策略揭示KCNQ1多态性与T2DM风险的相关性,MDR分析明确KCNQ1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KCNQ1的相关蛋白、功能和信号通路。采用PCR方法探讨KCNQ1在T2DM患者和对照组中的相对表达情况。结果:研究表明,KCNQ1基因上的rs163177、rs163184、rs2237895和rs2283228与西北地区T2DM发病风险密切相关。MDR结果显示,三位点模型是T2DM风险评估的最佳模型,它增加了T2DM的风险。生物信息学结果显示,KCNQ1密切作用蛋白主要参与胃酸分泌、肾素分泌等信号通路。PCR结果显示,与对照组相比,T2DM患者中KCNQ1表达上调。结论:研究结果揭示了KCNQ1多态性与西北地区人群T2DM发病风险相关,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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