Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion

被引：40

作者：

Thompson, Andrew R. ^{[1
]}

Golledge, Jonathan ^{[2
]}

Cooper, Jackie A. ^{[1
]}

Hafez, Hany

Norman, Paul E. ^{[3
]}

Humphries, Steve E. ^{[1
]}

机构：

[1] UCL, Dept Cardiovasc Genet, London, England

[2] James Cook Univ, Sch Med & Dent, Vasc Biol Unit, Townsville, Qld 4811, Australia

[3] Univ Western Australia, Sch Surg, Fremantle, WA, Australia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2009年 / 17卷 / 03期

基金：

澳大利亚国家健康与医学研究理事会; 美国国家卫生研究院;

关键词：

aneurysm; genetic; variant; growth; chromosome; 9p21; GENOME-WIDE ASSOCIATION; RISK; LOCI;

D O I：

10.1038/ejhg.2008.196

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Abdominal aortic aneurysm (AAA) is among a number of vascular disorders to be recently associated with a common allelic variant situated on chromosome 9p21. To further assess the significance of this region of the genome in AAA development, we genotyped the sequence variation tagged by rs10757278 in two geographically independent cohorts of patients and compared them to matched controls. We also assessed the impact of this variant on AAA growth rate in cohorts with a median surveillance period of 3.2 and 4.5 years. Using meta-analysis to combine the findings of both cohorts, we found a significant association between rs10757278-G and the presence of AAA (OR (95%CI) 1.38 (1.04-1.82) P = 0.03), an effect size completely consistent with that originally reported. rs10757278 was not significantly associated with altered AAA growth rate in either cohort.

引用

页码：391 / 394

页数：4

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