ACACβ 基因(rs2268388)和 AGTR1 基因(rs5186)多态性与亚洲 2 型糖尿病肾病患者的发病风险。

ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Indian patients with type 2 diabetes.

机构信息

Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Mol Cell Biochem. 2013 Jan;372(1-2):191-8. doi: 10.1007/s11010-012-1460-2. Epub 2012 Oct 19.

Abstract

Patients with type 2 diabetes (T2DM) are usually obese and concurrent obesity results into activation of the renin-angiotensin-system (RAS) which is a risk factor for diabetic nephropathy (DN). Gene-gene interaction between acetyl-coenzymeA carboxylase beta (ACACβ) gene, which is involved in fatty acid metabolism and angiotensin II receptors (AGTR1) gene, which mediates RAS proteins actions on renal tissue, polymorphism with DN have not been studied earlier. The present study was designed with the aim to examine the association of an ACACβ (rs2268388) and AGTR1 (rs5186) gene polymorphism with the risk of DN in Asian Indians. 1,158 patients with T2DM belonging to two independently ascertained North Indian and one South Indian cohorts were genotyped for ACACβ (rs2268388) and AGTR1 (rs5186) polymorphism using real time PCR-based Taq-man assay and PCR-RFLP assays. In all the three cohorts, a significantly higher frequency of T allele and TT genotypes of ACACβ and C allele and CC genotypes of AGTR1 were found in patients with DN as compared to patients without nephropathy. Further, T allele of ACACβ and C allele of AGTR1 were found to be significantly associated with proteinuria, a hallmark of DN. We also found significant epistatic interactions between these two genes. TT genotypes of ACACβ gene and CC genotype of AGTR1 gene confers the risk of DN and both genes had significant epistatic interaction in Asian Indian patients with T2DM.

摘要

2 型糖尿病(T2DM)患者通常肥胖,而肥胖会导致肾素-血管紧张素系统(RAS)激活,这是糖尿病肾病(DN)的一个风险因素。参与脂肪酸代谢的乙酰辅酶 A 羧化酶β(ACACβ)基因和介导 RAS 蛋白在肾脏组织中作用的血管紧张素 II 受体(AGTR1)基因之间的基因-基因相互作用与 DN 之前尚未研究过。本研究旨在探讨 ACACβ(rs2268388)和 AGTR1(rs5186)基因多态性与亚洲印度人 DN 风险的关系。使用实时 PCR 基于 Taq-man 测定法和 PCR-RFLP 测定法对来自两个独立确定的北印度和一个南印度队列的 1158 名 T2DM 患者进行了 ACACβ(rs2268388)和 AGTR1(rs5186)基因多态性的基因分型。在所有三个队列中,与无肾病患者相比,DN 患者的 ACACβ 基因 T 等位基因和 TT 基因型以及 AGTR1 基因 C 等位基因和 CC 基因型的频率明显更高。此外,ACACβ 的 T 等位基因和 AGTR1 的 C 等位基因与蛋白尿显著相关,这是 DN 的一个标志。我们还发现这两个基因之间存在显著的上位性相互作用。ACACβ 基因的 TT 基因型和 AGTR1 基因的 CC 基因型会增加发生 DN 的风险,并且这两个基因在 2 型糖尿病的亚洲印度患者中具有显著的上位性相互作用。

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