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埃及人群随机样本中内皮型一氧化氮合酶(G894T)基因多态性:与心肌梗死患者的比较

Endothelial nitric oxide synthase (G894T) gene polymorphism in a random sample of the Egyptian population: comparison with myocardial infarction patients.

作者信息

Gad Mohamed Z, Abdel Rahman Mohamed F, Hashad Ingy M, Abdel-Maksoud Sahar M, Farag Nabil M, Abou-Aisha Khaled

机构信息

Clinical Biochemistry Unit, Faculty of Pharmacy and Biotechnology, German University in Cairo, New Cairo City, Egypt.

出版信息

Genet Test Mol Biomarkers. 2012 Jul;16(7):695-700. doi: 10.1089/gtmb.2011.0342. Epub 2012 Jun 25.

Abstract

AIM

The aim of this study was to detect endothelial nitric oxide synthase (eNOS) Glu298Asp gene variants in a random sample of the Egyptian population, compare it with those from other populations, and attempt to correlate these variants with serum levels of nitric oxide (NO). The association of eNOS genotypes or serum NO levels with the incidence of acute myocardial infarction (AMI) was also examined.

METHODS

One hundred one unrelated healthy subjects and 104 unrelated AMI patients were recruited randomly from the 57357 Hospital and intensive care units of El Demerdash Hospital and National Heart Institute, Cairo, Egypt. eNOS genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism. Serum NO was determined spectrophotometrically.

RESULTS

The genotype distribution of eNOS Glu298Asp polymorphism determined for our sample was 58.42% GG (wild type), 33.66% GT, and 7.92% TT genotypes while allele frequencies were 75.25% and 24.75% for G and T alleles, respectively. No significant association between serum NO and specific eNOS genotype could be detected. No significant correlation between eNOS genotype distribution or allele frequencies and the incidence of AMI was observed.

CONCLUSION

The present study demonstrated the predominance of the homozygous genotype GG over the heterozygous GT and homozygous TT in random samples of Egyptian population. It also showed the lack of association between eNOS genotypes and mean serum levels of NO, as well as the incidence of AMI.

摘要

目的

本研究旨在检测埃及人群随机样本中内皮型一氧化氮合酶(eNOS)Glu298Asp基因变异,将其与其他人群的进行比较,并尝试将这些变异与一氧化氮(NO)血清水平相关联。还研究了eNOS基因型或血清NO水平与急性心肌梗死(AMI)发病率之间的关联。

方法

从埃及开罗的57357医院、El Demerdash医院重症监护病房和国家心脏研究所随机招募了101名无亲属关系的健康受试者和104名无亲属关系的AMI患者。通过聚合酶链反应-限制性片段长度多态性测定eNOS基因型。用分光光度法测定血清NO。

结果

我们样本中eNOS Glu298Asp多态性的基因型分布为58.42% GG(野生型)、33.66% GT和7.92% TT基因型,而G和T等位基因频率分别为75.25%和24.75%。未检测到血清NO与特定eNOS基因型之间的显著关联。未观察到eNOS基因型分布或等位基因频率与AMI发病率之间的显著相关性。

结论

本研究表明,在埃及人群随机样本中,纯合基因型GG比杂合GT和纯合TT占优势。研究还表明,eNOS基因型与NO平均血清水平以及AMI发病率之间缺乏关联。

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