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3
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4
A case control association study of ACE gene polymorphism (I/D) with hypertension in Punjabi population from Faisalabad, Pakistan.巴基斯坦费萨拉巴德旁遮普人群 ACE 基因多态性 (I/D) 与高血压的病例对照关联研究。
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Association of the insertion allele of the common ACE gene polymorphism with type 2 diabetes mellitus among Kuwaiti cardiovascular disease patients.科威特心血管疾病患者中常见ACE基因多态性插入等位基因与2型糖尿病的关联。
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塞尔维亚 1 型糖尿病青少年人群中 AGTR1、ACE、MTHFR 基因变异与微量白蛋白尿及糖尿病肾病发病危险因素的相关性。

Association of variants in AGTR1, ACE, MTHFR genes with microalbuminuria and risk factors for the onset of diabetic nephropathy in adolescents with type 1 diabetes in the population of Serbia.

机构信息

Endocrinology Department, University Children's Hospital, Belgrade, Serbia.

Faculty of Medicine, University of Belgrade, Belgrade, Serbia.

出版信息

PLoS One. 2024 Oct 24;19(10):e0312489. doi: 10.1371/journal.pone.0312489. eCollection 2024.

DOI:10.1371/journal.pone.0312489
PMID:39446857
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11500908/
Abstract

INTRODUCTION

Genetic studies may provide valuable information about patients who are at high risk of developing diabetes nephropathy. Before the appearance of albuminuria, there are genetic mutations that can predispose the development of kidney disease.

MATERIAL AND METHODS

The study included 130 adolescents with type 1 diabetes. Patients were divided into two groups according to the presence of microalbuminuria. This study was performed to examine clinical and laboratory differences between adolescents with type 1 diabetes with and without microalbuminuria and the distribution of the ACE, AGTR1, and MTHFR gene polymorphisms.

RESULTS

The mean microalbuminuria in the first group 6.41±7.35 significantly differs from the second group 0.82±0.48 (p<0.001). HbA1c, 24-hour proteinuria, and day-time systolic blood pressure were significantly higher in the MA group (p<0.05). Smaller systolic blood pressure percentage nocturnal decline was observed in the microalbuminuric group (p 0.030). The frequencies of the ACE DD, ID, and II genotypes were 12.5%, 50.0%, and 37.5%, respectively, among T1D patients with MA, and 19.3%, 56.1%, 24.6%, in the control group without MA (P = .510). The frequencies of the AGTR1 AA, AC, and CC genotypes were 62.5%, 25.0%, and 12.5% among TID patients with MA, and 49.1%, 43.9%, 8.0%, in the group without MA (p 0.326). The frequencies of the MTHFR CC, CT and TT genotypes were 37.5%, 50.0%, 12.5% among TID patients with MA, and 37.7%, 45.6%, 16.7% in the group without MA (p 0.901).

CONCLUSION

Our data suggest that common variants in the AGTR1, ACE, and MTHFR genes are not strongly associated with diabetic nephropathy in our patients with type 1 diabetes.

摘要

介绍

遗传研究可能为那些有发生糖尿病肾病风险的患者提供有价值的信息。在白蛋白尿出现之前,就存在使肾脏疾病发展的遗传突变。

材料和方法

这项研究纳入了 130 名 1 型糖尿病青少年患者。根据是否存在微量白蛋白尿,患者被分为两组。本研究旨在检查 1 型糖尿病伴和不伴微量白蛋白尿的青少年之间的临床和实验室差异,以及 ACE、AGTR1 和 MTHFR 基因多态性的分布。

结果

第一组的平均微量白蛋白尿为 6.41±7.35,显著高于第二组的 0.82±0.48(p<0.001)。MA 组的 HbA1c、24 小时蛋白尿和白天收缩压显著更高(p<0.05)。微量白蛋白尿组夜间收缩压下降百分比较小(p 0.030)。在有 MA 的 T1D 患者中,ACE DD、ID 和 II 基因型的频率分别为 12.5%、50.0%和 37.5%,而在无 MA 的对照组中,其频率分别为 19.3%、56.1%和 24.6%(P =.510)。在有 MA 的 TID 患者中,AGTR1 AA、AC 和 CC 基因型的频率分别为 62.5%、25.0%和 12.5%,而在无 MA 的组中,其频率分别为 49.1%、43.9%和 8.0%(p 0.326)。在有 MA 的 TID 患者中,MTHFR CC、CT 和 TT 基因型的频率分别为 37.5%、50.0%和 12.5%,而在无 MA 的组中,其频率分别为 37.7%、45.6%和 16.7%(p 0.901)。

结论

我们的数据表明,AGTR1、ACE 和 MTHFR 基因的常见变异与我们的 1 型糖尿病患者的糖尿病肾病没有很强的关联。