Pharmacogenomics and Personalized Medicine (Dec 2021)

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

  • Xu J,
  • Zhang W,
  • Song W,
  • Cui J,
  • Tian Y,
  • Chen H,
  • Huang P,
  • Yang S,
  • Wang L,
  • He X,
  • Wang L,
  • Shi B,
  • Cui W

Journal volume & issue
Vol. Volume 14
pp. 1731 – 1751

Abstract

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Jing Xu,1 Wei Zhang,2 Wei Song,1 Jiaqi Cui,1 Yanni Tian,1 Huan Chen,1 Pan Huang,1 Shujun Yang,1 Lu Wang,1 Xin He,3 Lin Wang,4 Bingyin Shi,5 Wei Cui1 1Department 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; 2Department of Breast Surgery, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, Shaanxi, 710061, People’s Republic of China; 3Department of Endocrinology, Xi’an Aerospace General Hospital, Xi’an, Shaanxi, 710000, People’s Republic of China; 4Department of Endocrinology, Xi’an Gaoxin Hospital, Xi’an, Shaanxi, 710075, People’s Republic of China; 5Department of Endocrinology, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, Shaanxi, 710061, People’s Republic of ChinaCorrespondence: Wei CuiThe First Affiliated Hospital of Xi’an Jiaotong University, #277 Yanta West Road, Xi’an, 710061, Shaanxi, People’s Republic of ChinaEmail [email protected] ShiThe First Affiliated Hospital of Xi’an Jiaotong University, #277 Yanta West Road, Xi’an, Shaanxi, 710061, People’s Republic of ChinaEmail [email protected]: 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

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