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“沙漠”基因(9号染色体短臂21区)变异作为冠状动脉疾病的新型标志物。

"Desert" gene (Chr9p21) variants as novel markers for coronary artery disease.

作者信息

Shendy Heba A, Hassanein Sally I, Gad Mohamed Z

机构信息

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

出版信息

Anatol J Cardiol. 2017 Aug;18(2):84-89. doi: 10.14744/AnatolJCardiol.2017.7730. Epub 2017 May 30.

Abstract

OBJECTIVE

Previous reports have denoted to the possible link of Chr9p21 locus to the incidence of coronary artery disease (CAD). The entire core of chr9p21 is covered by "ANRIL" (Antisense noncoding RNA in INK4 Locus) and lies in a region that is free from any coding proteins; therefore, it is called the desert gene. The major objectives of this study were to examine the association of rs10757278 and rs2383206 SNPs on Chr9p21 with the incidence of CAD in the presence and absence of type 2 diabetes (T2D) in Egyptians and to correlate these genetic variants with several disease biomarkers (TC, CRP, and HbA1c).

METHODS

The study subjects consisted of 150 subjects; 50 healthy controls and 100 patients that were divided into two groups; CAD patients and CAD T2D patients. The genotyping of SNPs was performed using qPCR.

RESULTS

Genotype distribution for both SNPs were found to be significantly different (p=0.0009 for rs10757278 and p=0.001 for rs2383206) between patients and controls. The allele frequency was also different for rs10757278.

CONCLUSION

The current study showed that rs10757278/rs2383206-G allele increases the risk for CAD in Egyptians. Moreover, AA variant appeared as a protective genotype. However, SNPs did not noticeably contribute in the elevation of TC, hs-CRP, and HbA1c in non-diabetic and diabetic CAD patients.

摘要

目的

既往报道指出9号染色体短臂21区(Chr9p21)位点可能与冠状动脉疾病(CAD)的发病有关。Chr9p21的整个核心区域被“ANRIL”(INK4基因座中的反义非编码RNA)覆盖,且位于一个没有任何编码蛋白的区域;因此,它被称为沙漠基因。本研究的主要目的是在埃及人群中,研究Chr9p21上的rs10757278和rs2383206单核苷酸多态性(SNP)与有无2型糖尿病(T2D)时CAD发病的相关性,并将这些基因变异与几种疾病生物标志物(总胆固醇、C反应蛋白和糖化血红蛋白)进行关联分析。

方法

研究对象包括150名受试者;50名健康对照者和100名患者,后者又分为两组,即CAD患者和CAD合并T2D患者。使用定量聚合酶链反应(qPCR)进行SNP基因分型。

结果

发现两个SNP的基因型分布在患者和对照之间存在显著差异(rs10757278的p值为0.0009,rs2383206的p值为0.001)。rs10757278的等位基因频率也有所不同。

结论

本研究表明,rs10757278/rs2383206-G等位基因增加了埃及人患CAD的风险。此外,AA变异型表现为一种保护性基因型。然而,SNP在非糖尿病和糖尿病CAD患者中对总胆固醇、高敏C反应蛋白和糖化血红蛋白的升高没有显著影响。

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本文引用的文献

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Atherosclerosis. 2011 Jul;217(1):220-6. doi: 10.1016/j.atherosclerosis.2011.03.014. Epub 2011 Mar 24.
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Type 2 diabetes and polymorphisms on chromosome 9p21: a meta-analysis.2 型糖尿病与 9p21 染色体上的多态性:一项荟萃分析。
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