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南印度高血压和慢性肾脏病患者血管紧张素转换酶(ACE)基因插入/缺失多态性的患病率

Prevalence of angiotensin converting enzyme (ACE) gene insertion/deletion polymorphism in South Indian population with hypertension and chronic kidney disease.

作者信息

Shanmuganathan R, Kumaresan R, Giri P

机构信息

Department of Biotechnology, Periyar Maniammai University, Thanjavur, Tamil Nadu, India.

出版信息

J Postgrad Med. 2015 Oct-Dec;61(4):230-4. doi: 10.4103/0022-3859.166510.

Abstract

CONTEXT

Chronic Kidney Disease (CKD) is associated with a high risk of developing further severe complications such as, cardiovascular disease and eventually End Stage Renal Disease (ESRD) leading to death. Hypertension plays a key role in the progression of renal failure and is also a chief risk factor for the occurrence of End Stage Renal Disease (ESRD).

AIM

This study investigates the possible association of insertion (I) and deletion (D) polymorphism of ACE gene in patients of Chronic Kidney Disease (CKD) with and without hypertension (HT).

SETTINGS AND DESIGN

Total 120 participants with 30 members in each group (Control, HT, CKD and CKD-HT) were chosen followed by informed consent.

MATERIALS AND METHODS

Blood samples were collected and subjected to biochemical analyses and nested PCR amplification was performed to genotype the DNA, for ACE I/D using specific primers.

STATISTICAL ANALYSIS

Statistical analyses were performed using SPSS version 13. Allele and genotypic frequency was calculated by direct gene counting method. Comparison of the different genotypes was done by using Chi square test. Odd's ratios were calculated with a 95% confidence interval limit.

RESULTS

The ACE genotype were distributed as II, 27 (90%); DD, 2 (6.67%) and ID, 1 (3.33%) in control, II, 1 (3.33%); DD, 5 (16.67%) and ID, 24 (80%) in HT, II, 4 (13.33%); DD, 24 (80%) and ID, 2 (6.67%) in CKD and II, 0 (0%); DD, 2 (6.67%) and ID, 28 (93.33%) in CKD-HT group.

CONCLUSIONS

D allele of ACE gene confers a greater role in genetic variations underlying CKD and hypertension. This result suggest that CKD patients should be offered analysis for defects in ACE I/D polymorphisms, especially if they are hypertensive.

摘要

背景

慢性肾脏病(CKD)与发生进一步严重并发症(如心血管疾病以及最终导致死亡的终末期肾病(ESRD))的高风险相关。高血压在肾衰竭进展中起关键作用,也是终末期肾病(ESRD)发生的主要危险因素。

目的

本研究调查慢性肾脏病(CKD)患者中血管紧张素转换酶(ACE)基因插入(I)和缺失(D)多态性与有无高血压(HT)之间可能存在的关联。

设置与设计

总共选取120名参与者,每组30名成员(对照组、高血压组、慢性肾脏病组和慢性肾脏病合并高血压组),并获得知情同意。

材料与方法

采集血样并进行生化分析,使用特异性引物对DNA进行巢式PCR扩增以对ACE I/D进行基因分型。

统计分析

使用SPSS 13版进行统计分析。通过直接基因计数法计算等位基因和基因型频率。使用卡方检验对不同基因型进行比较。计算比值比及其95%置信区间。

结果

ACE基因型在对照组中的分布为:II型27例(90%)、DD型2例(6.67%)、ID型1例(3.33%);在高血压组中为:II型1例(3.33%)、DD型5例(16.67%)、ID型24例(80%);在慢性肾脏病组中为:II型4例(13.33%)、DD型24例(80%)、ID型2例(6.67%);在慢性肾脏病合并高血压组中为:II型0例(0%)、DD型2例(6.67%)、ID型28例(93.33%)。

结论

ACE基因的D等位基因在慢性肾脏病和高血压潜在的基因变异中起更大作用。这一结果表明,应向慢性肾脏病患者提供ACE I/D多态性缺陷分析,尤其是高血压患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/398c/4943380/44cf4fd39564/JPGM-61-230-g001.jpg

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