Kumar Surendra, Aswal Vinod Kumar, Agrawal R P, Quoseena Mir, Jillellamudi Chinmayi, Kapur Suman, Toshan Nitesh Chandra
Professor, Principal and Controller, S.P. Medical College, Bikaner, Rajasthan, Corresponding Author.
Assistant Professor, Principal and Controller, S.P. Medical College, Bikaner, Rajasthan.
J Assoc Physicians India. 2018 Aug;66(8):58-61.
Diabetic nephropathy (DN) remains the most common cause of end stage renal disease (ESRD) as the burden of diabetes increases worldwide. Only 25 to 40% of patients with type 2 diabetes mellitus (T2DM) develop diabetic nephropathy irrespective of glycemic control so there should be a specific genetic basis for the development of diabetic nephropathy.
We have collected venous blood samples from 50 cases (Diabetic nephropathy) and 20 controls (T2DM without nephropathy) diagnosed by spot urine albumin creatinine ratio (ACR). DNA was isolated from processed samples. PCR study and sequencing was done to detect polymorphism of rs2237897 in KCNQ1 gene.
Statistically significant difference was found when the allelic frequencies between the two groups were compared (p=0.03), with the C allele having a 2.4 fold higher risk of having diabetic nephropathy (risk ratio, RR )= 1.16, 95%CI of RR = 1.01 to 1.3, Odds Ratio (OR) =2.4; 95% CI of OR =1.06 to 4.6). Chi-square analysis showed a significant difference in genotype frequency of rs2237897 (χ2 = 4.63, p=0.03) in Diabetic nephropathy subjects, compared with that of controls.
This study suggested that, KCNQ1 being an established type 2 diabetes gene, genetic variation in this gene may contribute to susceptibility to diabetic nephropathy and the C allele is the risk allele for diabetic nephropathy, which is different from Japanese population where the T allele was the risk allele.
随着全球糖尿病负担的增加，糖尿病肾病（DN）仍是终末期肾病（ESRD）最常见的病因。无论血糖控制情况如何，只有25%至40%的2型糖尿病（T2DM）患者会发生糖尿病肾病，因此糖尿病肾病的发生应该存在特定的遗传基础。
我们收集了50例经随机尿白蛋白肌酐比值（ACR）诊断为糖尿病肾病患者以及20例对照（无肾病的T2DM患者）的静脉血样本。从处理后的样本中提取DNA。进行PCR研究和测序以检测KCNQ1基因中rs2237897的多态性。
比较两组等位基因频率时发现具有统计学显著差异（p = 0.03），C等位基因患糖尿病肾病的风险高2.4倍（风险比，RR）= 1.16，RR的95%置信区间 = 1.01至1.3，优势比（OR）= 2.4；OR的95%置信区间 = 1.06至4.6）。卡方分析显示，与对照组相比，糖尿病肾病患者中rs2237897的基因型频率存在显著差异（χ2 = 4.63，p = 0.03）。
本研究表明，KCNQ1作为已确定的2型糖尿病基因，该基因的遗传变异可能导致对糖尿病肾病的易感性，且C等位基因是糖尿病肾病的风险等位基因，这与日本人群中T等位基因为风险等位基因的情况不同。
