Institute of Biotechnology & Genetic Engineering (Health Division), The University of Agriculture Peshawar, Pakistan.
Institute of Biotechnology & Genetic Engineering (Health Division), The University of Agriculture Peshawar, Pakistan,
Cell Physiol Biochem. 2024 May 6;58(3):203-211. doi: 10.33594/000000702.
BACKGROUND/AIMS: Diabetic nephropathy (DN) is one of the complications of diabetes mellitus (DM). This study aimed to investigate the association between genetic polymorphisms, specifically AGTR1 (rs5186) and TGF-β1 (rs1800470), and the risk of developing Diabetic nephropathy (DN) in type 2 diabetes mellitus patients, compared to those without DN and healthy controls.
A case-control study was conducted on 165 diabetic patients (59 with diabetic nephropathy (DN) and 54 without DN (DM)), and 52 healthy controls (HC). The genotyping was done using amplification refractory mutation system method (ARMS-PCR). Age, gender, and duration of diabetes were matched across groups. Clinical parameters including FBS, RBS, HbA1C, creatinine, urea, SBP, DBP, total cholesterol, triglycerides, LDL, and BMI were assessed.
Diabetic patients with nephropathy exhibited significantly higher levels of clinical parameters compared to those without nephropathy and healthy controls. The risk allele of , C ( <0.0001), and risk allele containing genotypes AC ( <0.0001) and CC ( - 0.0010) were significantly higher in DN patients compared to DM and HC groups. Similarly, the risk allele C ( - 0.0001), and corresponding genotypes TC ( - 0.0038) and CC ( - 0.0027) were significantly associated with increased risk of diabetic nephropathy compared to DM and HC groups.
The data showed significant association of (rs5186) and (rs1800470) polymorphism with an increased risk of diabetic nephropathy in type 2 diabetes mellitus patients. More investigation will be required to disseminate the results, while increasing the samples size and using whole genome sequencing.
背景/目的：糖尿病肾病（DN）是糖尿病（DM）的并发症之一。本研究旨在探讨血管紧张素原（AGTR1）（rs5186）和转化生长因子-β1（TGF-β1）（rs1800470）基因多态性与 2 型糖尿病患者发生糖尿病肾病（DN）风险的相关性，并与无 DN 的糖尿病患者和健康对照组进行比较。
采用病例对照研究，对 165 例糖尿病患者（59 例有糖尿病肾病（DN），54 例无糖尿病肾病（DM））和 52 例健康对照者（HC）进行研究。采用扩增受阻突变系统法（ARMS-PCR）进行基因分型。各组间年龄、性别和糖尿病病程相匹配。评估临床参数包括空腹血糖（FBS）、随机血糖（RBS）、糖化血红蛋白（HbA1C）、肌酐、尿素、收缩压（SBP）、舒张压（DBP）、总胆固醇、甘油三酯、低密度脂蛋白（LDL）和体重指数（BMI）。
与无肾病和健康对照组相比，有肾病的糖尿病患者的临床参数明显升高。与 DM 和 HC 组相比，DN 患者的风险等位基因 C（<0.0001）和风险等位基因携带基因型 AC（<0.0001）和 CC（-0.0010）明显更高。同样，与 DM 和 HC 组相比， 风险等位基因 C（<0.0001）和相应的基因型 TC（-0.0038）和 CC（-0.0027）与糖尿病肾病的风险增加显著相关。
数据显示，AGTR1（rs5186）和 TGF-β1（rs1800470）多态性与 2 型糖尿病患者发生糖尿病肾病的风险显著相关。需要进一步的研究来推广这些结果，同时增加样本量并使用全基因组测序。
