钾离子内向整流通道亚家族 J 成员 11（KCNJ11）基因多态性与埃及 2 型糖尿病患者的相关性：一项单中心研究。

Potassium inwardly-rectifying channel subfamily J member 11 (KCNJ11) gene polymorphism in Egyptian type 2 diabetic patients: a single-center study.

机构信息

Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Suez University, P.O. Box: 43221, Suez, Egypt.

Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.

出版信息

Mol Biol Rep. 2024 Nov 7;51(1):1129. doi: 10.1007/s11033-024-10035-4.

DOI:10.1007/s11033-024-10035-4

PMID:39508922

Abstract

BACKGROUND

The KCNJ11 gene belongs to the potassium channel gene family. It has a major role in the secretion of insulin. Genetic variations in KCNJ11 are possibly responsible for the progression of type 2 diabetes mellitus (T2DM). In this study, we investigated the possible correlation between KCNJ11 (rs5210) gene polymorphism and T2DM.

SUBJECTS AND METHOD

This study included 92 individuals divided into two groups. Group 1 included 46 type 2 diabetic patients. Group 2 (control group) included 46 healthy participants. A complete history was taken and a full physical examination was performed. Anthropometric data were measured. Laboratory investigations included fasting blood glucose (FBG), two hours post-prandial blood glucose (2HPPBG), glycated hemoglobin (HbA1c), and fasting lipid profile. KCNJ11 (rs5210) single nucleotide polymorphism was detected by polymerase chain reaction restriction-fragment length polymorphism (PCR-RFLP).

RESULTS

Both AG and GG genotypes were associated with increased risk for T2DM (OR 5.2, 95% CI 1.32-20.5, P = 0.01 for AG; and OR 18.2, 95% CI 2.99-31.7, P = 0.002 for GG). Also, the frequency of the G allele was significantly higher in type 2 diabetic patients compared to healthy controls (50% versus 23.9%, respectively). The G allele of rs5210 in KCNJ11 contributed to an increased risk of T2DM (OR 3.18, 95% CI 1.31-7.75, P = 0.01). There was a statistically significant association between increased 2HPPBG and HbA1c levels and the carrier of AG and GG genotypes (P = 0.01 and 0.007, respectively). There was a statistically significant association between total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-c), and high-density lipoprotein-cholesterol (HDL-c) levels and the carrier of AG and GG genotypes (P < 0.001, 0.02, and 0.007, respectively). Regression analysis detected that body mass index (BMI), 2HPPBG, TC, triglycerides (TG), and the G allele of rs5210 in KCNJ11 gene showed a significant association with T2DM (P = 0.004, 0.042, 0.003, 0.006, and 0.01, respectively) while no association was observed with FBG, HbA1c, LDL-c or HDL-c (P = 0.099, 0.123, 0.522, and 0.765, respectively).

CONCLUSION

KCNJ11 rs5210 genetic polymorphism may raise the risk for the occurrence of T2DM among Egyptians.

摘要

背景

KCNJ11 基因属于钾通道基因家族。它在胰岛素分泌中起着重要作用。KCNJ11 基因的遗传变异可能导致 2 型糖尿病（T2DM）的进展。在这项研究中，我们研究了 KCNJ11（rs5210）基因多态性与 T2DM 之间的可能相关性。

受试者和方法

本研究包括 92 名个体，分为两组。第 1 组包括 46 名 2 型糖尿病患者。第 2 组（对照组）包括 46 名健康参与者。记录完整的病史并进行全面的体格检查。测量人体测量数据。实验室检查包括空腹血糖（FBG）、餐后两小时血糖（2HPPBG）、糖化血红蛋白（HbA1c）和空腹血脂谱。通过聚合酶链反应限制性片段长度多态性（PCR-RFLP）检测 KCNJ11（rs5210）单核苷酸多态性。

结果

AG 和 GG 基因型均与 T2DM 的发病风险增加相关（AG 的 OR 为 5.2，95%CI 为 1.32-20.5，P=0.01；GG 的 OR 为 18.2，95%CI 为 2.99-31.7，P=0.002）。此外，与健康对照组相比，2 型糖尿病患者中 G 等位基因的频率明显更高（分别为 50%和 23.9%）。KCNJ11 中 rs5210 的 G 等位基因导致 T2DM 的发病风险增加（OR 为 3.18，95%CI 为 1.31-7.75，P=0.01）。AG 和 GG 基因型携带者的 2HPPBG 和 HbA1c 水平升高与 T2DM 相关（P=0.01 和 0.007，分别）。TC、LDL-c 和 HDL-c 水平与 AG 和 GG 基因型携带者之间存在统计学显著关联（P<0.001、0.02 和 0.007，分别）。回归分析检测到 BMI、2HPPBG、TC、甘油三酯（TG）和 KCNJ11 基因中 rs5210 的 G 等位基因与 T2DM 显著相关（P=0.004、0.042、0.003、0.006 和 0.01，分别），而 FBG、HbA1c、LDL-c 和 HDL-c 无相关性（P=0.099、0.123、0.522 和 0.765，分别）。