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

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

doi:10.2147/PGPM.S340813

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

Pharmgenomics Pers Med. 2021 Dec 31:14:1731-1751. doi: 10.2147/PGPM.S340813. eCollection 2021.

Authors

Jing Xu¹, Wei Zhang², Wei Song¹, Jiaqi Cui¹, Yanni Tian¹, Huan Chen¹, Pan Huang¹, Shujun Yang¹, Lu Wang¹, Xin He³, Lin Wang⁴, Bingyin Shi⁵, Wei Cui¹

Affiliations

¹ 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.
² Department of Breast Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, People's Republic of China.
³ Department of Endocrinology, Xi'an Aerospace General Hospital, Xi'an, Shaanxi, 710000, People's Republic of China.
⁴ Department of Endocrinology, Xi'an Gaoxin Hospital, Xi'an, Shaanxi, 710075, People's Republic of China.
⁵ Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, People's Republic of China.

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.

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

Grants and funding

This work was supported by Key research and development program of Shaanxi province (No. 2018SF-156), Social development science and technology public relations project of Shaanxi province (No. 2016SF-314), Fund of the First Affiliated Hospital of Xi’an Jiaotong University (No. 2017QN-16), the Natural Science Foundation of Shaanxi Province (No. 2020GXLH-Y-029, 2019JQ069, 2019JM262), the Bethune-Merck Diabetes Research Foundation (No. G-X-2019-056), the Clinical Research Award of the First Affiliated Hospital of Xi’an Jiaotong University, China (No. XJTU1AF-CRF-2019-007), the Natural Science Foundation of China (No. 81801459; No. 81741079; No. 82071732), the Natural Science Foundation for Postdoctoral Scientists of China (No. 2018M641001, No. 2016M600799), and the Fundamental Research Funds for the Central University (No. Z20186124, Z201704129).