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糖尿病肾病患者中ACE(插入/缺失)和AGT(M268T)基因的遗传变异

Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nephropathy.

作者信息

Shaikh Rozeena, Shahid Syed M, Mansoor Qaisar, Ismail Muhammad, Azhar Abid

机构信息

The Karachi Institute of Biotechnology & Genetic Engineering (KIBGE), University of Karachi, Karachi, Pakistan.

The Karachi Institute of Biotechnology & Genetic Engineering (KIBGE), University of Karachi, Karachi, Pakistan

出版信息

J Renin Angiotensin Aldosterone Syst. 2014 Jun;15(2):124-30. doi: 10.1177/1470320313512390. Epub 2014 Apr 15.

Abstract

INTRODUCTION

Diabetes mellitus (DM) has been a growing epidemic worldwide and poses a major socio-economic challenge. The leading cause of DM death is nephropathy due to end-stage renal disease (ESRD). This study aims to identify the possible association of I/D variants of the ACE gene and M268T (rs699) of the AGT gene of renin-angiotensin-aldosterone system (RAAS).

MATERIALS AND METHODS

Study subjects include 115 patients with DM, 110 with diabetic nephropathy (DN) and 110 controls. Fasting blood samples were collected for biochemical analyses and PCR amplification of specific regions of the ACE and AGT genes using primers.

RESULTS

The distribution of ACE (I/D) II 28.8%, ID 35.6% and DD 35.6% while in DN II 24.5%, ID 41% and DD 34.5%. The AGT (M268T) genotypes were distributed in DM as TT 30.4%, MT 66.9% and MM 2.6% while in DN subjects TT 56.4%, MT 42.7% and MM 0.9%.

CONCLUSION

Significant differences were observed in the DD genotype and D allele of the ACE gene and the TT genotype and T allele of AGT genes between diabetic patients with and without nephropathy. The study may conclude that the D allele polymorphism in the ACE gene and the T allele polymorphism in AGT gene may be considered as genetic risk factors for the development of nephropathy in diabetes.

摘要

引言

糖尿病(DM)在全球范围内呈流行趋势,构成了重大的社会经济挑战。糖尿病死亡的主要原因是终末期肾病(ESRD)导致的肾病。本研究旨在确定肾素 - 血管紧张素 - 醛固酮系统(RAAS)中ACE基因的I/D变异与AGT基因的M268T(rs699)之间可能存在的关联。

材料与方法

研究对象包括115例糖尿病患者、110例糖尿病肾病(DN)患者和110例对照。采集空腹血样进行生化分析,并使用引物对ACE和AGT基因的特定区域进行PCR扩增。

结果

ACE(I/D)的分布情况为II型占28.8%,ID型占35.6%,DD型占35.6%;而在糖尿病肾病患者中,II型占24.5%,ID型占41%,DD型占34.5%。AGT(M268T)基因型在糖尿病患者中的分布为TT型占30.4%,MT型占66.9%,MM型占2.6%;在糖尿病肾病患者中,TT型占56.4%,MT型占42.7%,MM型占0.9%。

结论

在有肾病和无肾病的糖尿病患者之间,观察到ACE基因的DD基因型和D等位基因以及AGT基因的TT基因型和T等位基因存在显著差异。该研究可能得出结论,ACE基因中的D等位基因多态性和AGT基因中的T等位基因多态性可被视为糖尿病肾病发生的遗传危险因素。

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