Evaluation of Single-Nucleotide Polymorphisms of Transcription Factor 7-Like 2 and ATP2B1 Genes as Cardiovascular Risk Predictors in Chronic Kidney Disease

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL
S. Kulkarni, M. Lenin, R. Ramesh, S. Delphine, Kuzhandai Velu
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引用次数: 2

Abstract

Introduction: Cardiovascular disease (CVD) is the primary cause of morbidity and premature mortality in chronic kidney disease (CKD). The transcription factor 7-like 2 (TCF7L2) gene product TCF4 is a transcription factor that acts as a downstream effector in the canonical Wnt signaling pathway and may be important in the development of both type 2 diabetes and renal development and disease. It is, therefore, plausible that mutations in this gene could manifest themselves in reduced kidney function or kidney disease through their effects on hyperglycemia as well as independent of this mechanism. The ATP2B1 gene encodes the plasma membrane calcium ATPase isoform 1, which removes bivalent calcium ions from eukaryotic cells against very large concentration gradients and is responsible for controlling the contraction and dilation of vascular smooth muscles. Aim and Objectives: The aims of this study are (1) to evaluate single-nucleotide polymorphisms (SNPs) of TCF7L2 gene as cardiovascular risk predictors in CKD and (2) to evaluate SNPs of ATP2B1 gene as cardiovascular risk predictors in CKD. Subjects and Methods: Fifty clinically diagnosed CKD patients in the age group between 20 and 60 years of both genders were selected as cases and fifty healthy participants from the master health checkup department were selected as controls. Genomic DNA was extracted based on the spin column kit method. The DNA samples were stored at −20°C until analysis. Genotyping for TCF7L2 gene rs7903146 (C/T) and ATP2B1 gene rs11105354 (A/G) was carried out through polymerase chain reaction. Results: T allele frequency was observed in 12 controls and 23 cases (odds ratio [OR] = 2.2, 95% confidence interval [CI]: 1.0–4.7). CC genotype was observed in 38 controls and 27 cases and CT genotype in 22 cases and 12 controls. A allele was found in 38 cases and 23 controls (OR = 2, 95% CI: 1.1–3.8). The mean values of cholesterol, low-density lipoprotein, triglycerides, glucose, insulin, urea, and creatinine were high in cases when compared to controls. Conclusion: T allele of TCF7L2 gene rs7903146 (C/T) and A allele of ATP2B1 (A/G) gene rs11105354 (A/G) are associated with CVD in CKD patients.
转录因子7-样2和ATP2B1基因单核苷酸多态性作为慢性肾脏疾病心血管风险预测因子的评价
引言:心血管疾病(CVD)是慢性肾脏疾病(CKD)发病率和过早死亡的主要原因。转录因子7-样2(TCF7L2)基因产物TCF4是一种在典型Wnt信号通路中起下游效应的转录因子,并且可能在2型糖尿病和肾脏发育和疾病的发展中起重要作用。因此,该基因的突变可能通过其对高血糖的影响而表现为肾功能下降或肾脏疾病,并且与该机制无关。ATP2B1基因编码质膜钙ATP酶异构体1,其在非常大的浓度梯度下从真核细胞中去除二价钙离子,并负责控制血管平滑肌的收缩和扩张。目的和目的:本研究的目的是(1)评估TCF7L2基因单核苷酸多态性(SNPs)作为CKD心血管风险预测因子的作用;(2)评估ATP2B1基因SNPs作为CKD的心血管风险预测因素的作用。受试者和方法:选择50名年龄在20至60岁之间的临床诊断CKD患者作为病例,并选择来自主健康检查部门的50名健康参与者作为对照。基于旋转柱试剂盒法提取基因组DNA。DNA样本在−20°C下储存,直至进行分析。采用聚合酶链式反应对TCF7L2基因rs7903146(C/T)和ATP2B1基因rs11105354(A/G)进行基因分型。结果:在12例对照组和23例病例中观察到T等位基因频率(比值比[OR]=2.2,95%置信区间[CI]:1.0–4.7)。在38例对照组中观察到CC基因型,在27例对照组观察到CT基因型。在38例病例和23例对照组中发现了一个等位基因(OR=2,95%CI:1.1-3.8)。与对照组相比,病例中胆固醇、低密度脂蛋白、甘油三酯、葡萄糖、胰岛素、尿素和肌酐的平均值较高。结论:TCF7L2基因rs7903146(C/T)的T等位基因和ATP2B1基因rs11105354(A/G)的A等位基因与CKD患者的CVD有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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