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.
Keywords: KCNQ1 , polymorphism, type 2 diabetes, case-control strategy, MDR analysis