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.
Mol Biol Rep. 2024 Nov 7;51(1):1129. doi: 10.1007/s11033-024-10035-4.
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.
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).
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).
KCNJ11 rs5210 genetic polymorphism may raise the risk for the occurrence of T2DM among Egyptians.
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。
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。
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）。
KCNJ11 rs5210 遗传多态性可能增加埃及人发生 T2DM 的风险。
