Association of an allele on chromosome 9 and abdominal aortic aneurysm

被引：25

作者：

Biros, Erik ^{[1
]}

Cooper, Matthew ^{[2
]}

Palmer, Lyle J. ^{[2
]}

Walker, Philip J. ^{[3
]}

Norman, Paul E. ^{[4
]}

Golledge, Jonathan ^{[1
]}

机构：

[1] James Cook Univ, Sch Med, Vasc Biol Unit, Townsville, Qld 4811, Australia

[2] Univ Western Australia, Ctr Genet Epidemiol & Biostat, Perth, WA 6009, Australia

[3] Univ Queensland, Dept Surg, Royal Brisbane & Womens Hosp, Herston, Qld 4029, Australia

[4] Univ Western Australia, Fremantle Hosp, Sch Surg, Fremantle, WA 6959, Australia

来源：

ATHEROSCLEROSIS | 2010年 / 212卷 / 02期

基金：

英国医学研究理事会;

关键词：

Abdominal aortic aneurysm; Risk locus; Retrotransposons; RETROTRANSPOSITION;

D O I：

10.1016/j.atherosclerosis.2010.06.015

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective: Abdominal aortic aneurysm (AAA) has been recognized as a multi-factorial disease with both genetic and environmental risk factors. A locus residing within non-coding DNA on chromosome 9p21.3 has recently been associated with AAA. To further investigate the significance of this site for AAA, we performed an association study on a large group of 3371 men aged 65-83 years of whom 513 had an AAA. Methods: All men were assessed for other risk factors in a uniform way and an ultrasound of the abdominal aorta was performed. Results: Our findings validated the strong association of the chromosome 9p21.3 SNPs rs10757278 and rs1333049 with AAA and demonstrated the upregulation of LINE-1 elements at the site of AAA. Conclusion: This study confirms a reproducible association between risk alleles on chromosome 9p21.3 and AAA. We also provide preliminary evidence for an association of LINE-1 elements with AAA which will require further investigation. (C) 2010 Elsevier Ireland Ltd. All rights reserved.

引用

页码：539 / 542

页数：4

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