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腹主动脉瘤的遗传基础:综述

The genetic basis of abdominal aortic aneurysms: a review.

作者信息

Sandford R M, Bown M J, London N J, Sayers R D

机构信息

Vascular Surgery Group, Department of Cardiovascular Sciences, University of Leicester, Leicester Royal Infirmary, Leicester, UK.

出版信息

Eur J Vasc Endovasc Surg. 2007 Apr;33(4):381-90. doi: 10.1016/j.ejvs.2006.10.025. Epub 2007 Feb 2.

DOI:10.1016/j.ejvs.2006.10.025
PMID:17276705
Abstract

INTRODUCTION

The pathogenesis of abdominal aortic aneurysm (AAA) remains poorly understood, however significant evidence has emerged in recent years to suggest a chronic inflammatory process. Observational studies have highlighted a familial trend towards AAA development among relatives of affected individuals and it is thought that inflammatory genes may influence an individual's susceptibility. Conflicting reports exist over single gene versus multiple gene inheritance patterns in addition to a collection of studies examining individual inflammatory genes. This paper reviews the evidence for a genetic predisposition to aneurysm formation including familial and segregation studies in addition to experimental evidence investigating specific candidate genes.

METHOD

Medline and Pubmed database searches were conducted using the search terms abdominal aortic aneurysm and gene. Papers were reviewed and references manually searched for further relevant publications which were added to the data. Papers were categorised under the headings familial, segregation and candidate gene studies.

RESULTS

A review of 58 papers is presented under sub-headings as above. In the case of the candidate gene section, a brief report of the functional relevance of each gene is included.

CONCLUSION

A summary of the evidence presented is given and the direction of future work in this field is briefly considered.

摘要

引言

腹主动脉瘤(AAA)的发病机制仍未完全明确,然而近年来已有大量证据表明其与慢性炎症过程有关。观察性研究强调了腹主动脉瘤在患病个体亲属中的家族性发病趋势,并且认为炎症基因可能影响个体易感性。除了一系列针对单个炎症基因的研究外,关于单基因与多基因遗传模式还存在相互矛盾的报道。本文回顾了动脉瘤形成的遗传易感性证据,包括家族性和分离研究,以及研究特定候选基因的实验证据。

方法

使用搜索词“腹主动脉瘤”和“基因”在Medline和Pubmed数据库中进行检索。对检索到的论文进行了综述,并手动搜索参考文献以获取更多相关出版物并纳入数据。论文按照家族性、分离性和候选基因研究进行分类。

结果

按照上述小标题对58篇论文进行了综述。在候选基因部分,还包括了每个基因功能相关性的简要报告。

结论

对所呈现的证据进行了总结,并简要考虑了该领域未来的研究方向。

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