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围产期心肌病女性中ACE基因插入/缺失多态性:一项病例对照研究。

Insertion/deletion polymorphism of ACE gene in females with peripartum cardiomyopathy: A case-control study.

作者信息

Yaqoob Irfan, Tramboo Nisar A, Bhat Irfan A, Pandith Arshad, Beig Jahangir R, Hafeez Imran, Lone Aijaz A, Shah Tariq R, Samreen Sumera

机构信息

Dep't. of Cardiology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India.

Dep't. of Cardiology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India.

出版信息

Indian Heart J. 2018 Jan-Feb;70(1):66-70. doi: 10.1016/j.ihj.2017.05.020. Epub 2017 Jun 1.

Abstract

BACKGROUND

The role of polymorphism of Angiotensin converting enzyme (ACE) gene and ACE activity in etiopathogenesis, prognosis, and many other clinical parameters in the various form of the cardiovascular disease has been established to some degree of certainty. The pathophysiology of Peripartum cardiomyopathy (PPCM) remains an area of active research. The main aim of our study was to see pattern of ACE- Insertion/Deletion (I/D) allele in PPCM and its implications on left ventricular performance indices.

METHODS

This single-center case-control study included 45 cases and 70 controls. The diagnosis of PPCM was established clinically and echocardiographically. ACE genotyping was done by polymerase chain reaction (PCR) method in all subjects.

RESULTS

The II, ID, and DD genotype was present in 16, 18 and 11 of subjects with PPCM and 48, 19 and 3 of controls respectively. The odds ratio for ACE-II genotype in cases vs. controls was 0.253 (95% CI=0.114-0.558; p=0.007), for that of II genotype was 1.93 (95% CI=0.86-4.3; p=0.107) and for DD genotype was 7.225 (95% CI; 1.88-27.6; p=0.0039). Overall frequency of D allele in cases was significantly higher than controls (odds=4.25; 95% CI=2.01-6.7; p=0.0001). Moreover, ejection fraction, left ventricular volume and linear dimensions were worse in patients with DD genotype.

CONCLUSION

ACE DD genotype and overall frequency of D allele is significantly higher in patients with PPCM. Also, the presence of DD genotype is associated with worse systolic performance indices measured echocardiographically.

摘要

背景

血管紧张素转换酶(ACE)基因多态性及ACE活性在各种形式心血管疾病的病因、预后及许多其他临床参数中的作用已在一定程度上得以明确。围产期心肌病(PPCM)的病理生理学仍是一个活跃的研究领域。我们研究的主要目的是观察PPCM中ACE插入/缺失(I/D)等位基因的模式及其对左心室性能指标的影响。

方法

这项单中心病例对照研究纳入了45例病例和70例对照。PPCM的诊断通过临床和超声心动图检查确定。所有受试者均采用聚合酶链反应(PCR)法进行ACE基因分型。

结果

PPCM患者中II、ID和DD基因型分别有16例、18例和11例,对照中分别有48例、19例和3例。病例组与对照组相比,ACE-II基因型的优势比为0.253(95%CI = 0.114 - 0.558;p = 0.007),II基因型的优势比为1.93(95%CI = 0.86 - 4.3;p = 0.107),DD基因型的优势比为7.225(95%CI;1.88 - 27.6;p = 0.0039)。病例组中D等位基因的总体频率显著高于对照组(优势比 = 4.25;95%CI = 2.01 - 6.7;p = 0.0001)。此外,DD基因型患者的射血分数、左心室容积和线性维度更差。

结论

PPCM患者中ACE DD基因型及D等位基因的总体频率显著更高。此外,DD基因型的存在与超声心动图测量的较差收缩性能指标相关。

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