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CCR5基因Delta32多态性在腹主动脉瘤中的作用。

The role of the CCR5 Delta32 polymorphism in abdominal aortic aneurysms.

作者信息

Sandford B, Bown M, London N, Sayers R

机构信息

Leicester Royal Infirmary, Leicester, UK.

出版信息

Int J Immunogenet. 2009 Aug;36(4):199-205. doi: 10.1111/j.1744-313X.2009.00845.x. Epub 2009 May 19.

Abstract

BACKGROUND

C-C chemokine receptor 5 (CCR5) is involved in the regulation of the inflammatory response. Abdominal aortic aneurysms (AAA) may arise as the result of a chronic inflammatory process which is influenced by genetic predisposition. The CCR5 gene is associated with a 32 base pair deletion (the Delta32 polymorphism). The aim of this study was to investigate the role of the CCR5 Delta32 polymorphism in the development of AAA.

METHODS

A case-control study was conducted including 285 patients with AAA and 273 control subjects. A blood sample was taken from each individual and DNA was extracted. CCR5 genotype was determined using the polymerase chain reaction (PCR). Flow cytometry was used to investigate the biological activity of the Delta32 polymorphism.

RESULTS

There was no significant difference between the AAA and the control group in relation to the Delta32 allele frequency (AAA group 10%, control group = 12%, P = 0.82, chi-squared analysis). Genotype analysis revealed no significant difference between the groups (AAA vs. controls, wild-type homozygotes = 82% vs. 77%, heterozygotes = 16% vs. 21%, vs. Delta32 homozygotes = 2% and 2%, respectively, P = 0.33, chi-squared analysis). The polymorphism was shown to be biologically active with the number of Delta32 alleles correlating with cell expression of ccr5 as detected with flow cytometry (P < or = 0.05).

CONCLUSION

This study demonstrates that the ccr5 Delta32 is a biologically active genetic polymorphism; however, there is no association between this polymorphism and AAA.

摘要

背景

C-C趋化因子受体5(CCR5)参与炎症反应的调节。腹主动脉瘤(AAA)可能是由受遗传易感性影响的慢性炎症过程导致的。CCR5基因与一个32个碱基对的缺失(Delta32多态性)相关。本研究的目的是探讨CCR5 Delta32多态性在AAA发生发展中的作用。

方法

进行了一项病例对照研究,纳入285例AAA患者和273例对照受试者。从每个个体采集血样并提取DNA。使用聚合酶链反应(PCR)确定CCR5基因型。采用流式细胞术研究Delta32多态性的生物学活性。

结果

AAA组和对照组在Delta32等位基因频率方面无显著差异(AAA组为10%,对照组为12%,P = 0.82,卡方分析)。基因型分析显示两组之间无显著差异(AAA组与对照组,野生型纯合子分别为82%对77%,杂合子分别为16%对21%,Delta32纯合子分别为2%和2%,P = 0.33,卡方分析)。流式细胞术检测显示该多态性具有生物学活性,Delta32等位基因数量与ccr5细胞表达相关(P≤0.05)。

结论

本研究表明ccr5 Delta32是一种具有生物学活性的基因多态性;然而,这种多态性与AAA之间没有关联。

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