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Fibulin-5 常见多态性与腹主动脉瘤发展风险。

Common polymorphisms of Fibulin-5 and the risk of abdominal aortic aneurysm development.

机构信息

Vascular and Endovascular Surgery Department, Belfast City Hospital, Belfast, Northern Ireland.

出版信息

Vasc Med. 2010 Apr;15(2):113-7. doi: 10.1177/1358863X09355667. Epub 2010 Feb 4.

Abstract

Fibulin-5 is a crucial protein in the connective tissue structure of the aortic wall. The purpose of this study was to determine if genetic variation within the Fibulin-5 gene was associated with abdominal aortic aneurysms (AAA). AAA patients, with disease-free controls, were recruited and a past medical history questionnaire completed. Three single nucleotide polymorphisms (SNPs) in the FBLN5 gene (rs2498834, rs2430366 and rs2254320) were genotyped. The two cohorts were compared and haplotype analysis performed. A total of 230 AAA cases and 278 controls were successfully genotyped. The mean age was 71.9 years (+/- 6.8). No difference between cases and controls was found in the distribution of alleles of FBLN5 SNPs rs2498834 (p = 0.47), rs2430366 (p = 0.45) or rs2254320 (p = 0.46). Haplotype analysis did not reveal any significant difference. In conclusion, genetic variation within FBLN5 is unlikely to play any role in the development of AAA.

摘要

纤维调蛋白 5 是主动脉壁结缔组织结构中的一种重要蛋白。本研究旨在确定 Fibulin-5 基因内的遗传变异是否与腹主动脉瘤(AAA)有关。招募了 AAA 患者和无疾病对照者,并完成了一份既往病史问卷。对 FBLN5 基因中的三个单核苷酸多态性(SNP)(rs2498834、rs2430366 和 rs2254320)进行了基因分型。比较了两个队列并进行了单倍型分析。成功对 230 例 AAA 病例和 278 例对照进行了基因分型。平均年龄为 71.9 岁(+/-6.8)。在 FBLN5 SNP rs2498834(p=0.47)、rs2430366(p=0.45)或 rs2254320(p=0.46)的等位基因分布方面,病例和对照组之间没有差异。单倍型分析也未发现任何显著差异。总之,FBLN5 内的遗传变异不太可能在 AAA 的发展中起作用。

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