Association of the CHGA gene polymorphism in patients with hemorrhagic stroke and/or aneurysm

Joanilson C. M. Santos Júnior, C. Fratelli, Alan Cristian F. Nóbrega, Suzana Cristina Rodrigues, L. Duarte, C. Silva, Jonathan D. Lima, L. Ferreira, D. Freire, V. F. Cipriano, Izabel Cristina R. Silva, Hélia Carla de Souza
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Abstract

Introduction: Cerebrovascular diseases have been associated with several genes. Chromogranin A ( CHGA ) has been used as maker in cardiovascular disease. Therefore, evaluating the polymorphism and verifying its association with this pathology is very important to better understand this disease. Objective: The aim of this study was to identify the association between coding region polymorphism in -264 position of the CHGA gene ( Glu264Asp ) and hemorrhagic stroke (HS)/aneurysm in the Federal District, Brazil. Methods: This is a population-based case-control, involving 45 cases with HS and/or aneurysm. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method is used for genotyping these samples. A significance level of 5% was adopted. Results: The absence of the CC genotype the Glu264Asp CHGA polymorphism in the study participants and the significant presence of the GC heterozygote genotype were observed in this study. However, the distribution of genotypes did not differ statistically in the groups. Conclusion: The Glu264Asp CHGA polymorphism does not seem to contribute to the genesis of the CHGA protein expression in this patients group, but to understand whether or not there is a possible association of the pathology in question and whether the mutation will contribute in the gene therapy and thus to improve patients’ quality of life.
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出血性卒中和/或动脉瘤患者CHGA基因多态性的相关性
导读:脑血管疾病与多种基因有关。嗜铬粒蛋白A (CHGA)在心血管疾病中起着制造者的作用。因此,评估多态性并验证其与该病理的相关性对于更好地了解该疾病非常重要。目的:本研究旨在确定巴西联邦区CHGA基因(Glu264Asp) -264位点编码区多态性与出血性卒中(HS)/动脉瘤之间的关系。方法:这是一个以人群为基础的病例对照,涉及45例HS和/或动脉瘤。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对样品进行基因分型。采用5%的显著性水平。结果:本研究中,CC基因型Glu264Asp CHGA多态性缺失,GC杂合子基因型显著存在。然而,基因型分布在组间无统计学差异。结论:Glu264Asp CHGA多态性似乎与该患者组CHGA蛋白表达的发生无关,但需要了解是否与所讨论的病理存在可能的关联,以及该突变是否有助于基因治疗,从而提高患者的生活质量。
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来源期刊
Jornal Brasileiro de Patologia e Medicina Laboratorial
Jornal Brasileiro de Patologia e Medicina Laboratorial Health Professions-Medical Laboratory Technology
CiteScore
1.30
自引率
0.00%
发文量
0
审稿时长
20 weeks
期刊介绍: The Jornal Brasileiro de Patologia e Medicina Laboratorial (Brazilian Journal of Pathology and Laboratory Medicine), a continuation of Jornal Brasileiro de Patologia (Brazilian Journal of Pathology), and published quarterly (March, June, September and December) is directed towards the publication of scientific articles that contribute to the development of the area of Laboratory Medicine (Clinical Pathology, Pathology, Cytopathology). It accepts the following categories of articles: original articles, review articles, case reports, short communications, updating articles, letters to editors and reviews.
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