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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm
Human Molecular Genetics, Volume 22, No. 14, Article ddt141, Year 2013
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Description
Abdominal aortic aneurysm (AAA) is a common human disease with a high estimated heritability (0.7); however, only a small number of associated genetic loci have been reported to date. In contrast, over 100 loci have now been reproducibly associated with either blood lipid profile and/or coronary artery disease (CAD) (both risk factors for AAA) in large-scale meta-analyses. This study employed a staged design to investigate whether the loci for these two phenotypes are also associated with AAA. Validated CAD and dyslipidaemia loci underwent screening using the Otago AAA genome-wide association data set. Putative associations underwent staged secondary validation in 10 additional cohorts. A novel association between the SORT1 (1p13.3) locus and AAA was identified. The rs599839 G allele, which has been previously associated with both dyslipidaemia and CAD, reached genome-wide significance in 11 combined independent cohorts (meta-analysis with 7048 AAA cases and 75 976 controls: G allele OR 0.81, 95% CI 0.76-0.85, P 5 7.2 3 10214). Modelling for confounding interactions of concurrent dyslipidaemia, heart disease and other risk factors suggested that this marker is an independent predictor of AAA susceptibility. In conclusion, a genetic marker associated with cardiovascular risk factors, and in particular concurrent vascular disease, appeared to independently contribute to susceptibility for AAA. Given the potential genetic overlap between risk factor and disease phenotypes, the use of well-characterized case-control cohorts allowing for modelling of cardiovascular disease risk confounders will be an important component in the future discovery of genetic markers for conditions such as AAA. © The Author 2013.
Authors & Co-Authors
Jones, Gregory Thomas
New Zealand, Dunedin
University of Otago
Bown, Matthew J.
United Kingdom, Leicester
University of Leicester
United Kingdom, Leicester
Glenfield Hospital
Grétarsdóttir, Sólveig
Iceland, Reykjavik
Decode Genetics
Romaine, Simon P.R.
United Kingdom, Leeds
University of Leeds
Helgadóttir, Anna
Iceland, Reykjavik
Decode Genetics
Tromp, Gerard C.
United States, Danville
Geisinger Medical Center
Norman, Paul Edward
Australia, Perth
The University of Western Australia
Baas, Annette F.
Netherlands, Utrecht
University Medical Center Utrecht
Blankensteijn, J. D.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Kullo, Iftikhar J.
United States, Rochester
Mayo Clinic
Williams, Michael J.A.
New Zealand, Dunedin
University of Otago
Merriman, Tony R.
New Zealand, Dunedin
University of Otago
Vasudevan, Thodur M.
New Zealand, Hamilton
Waikato Hospital
Lewis, David R.
New Zealand, Christchurch
Christchurch Hospital new Zealand
Blair, Ross D.
New Zealand, Hamilton
Waikato Hospital
Hill, Andrew A.
New Zealand, Auckland
Auckland City Hospital
Sayers, Robert D.
United Kingdom, Leicester
University of Leicester
United Kingdom, Leicester
Glenfield Hospital
Powell, Janet Tinka
United Kingdom, London
Imperial College London
Deloukas, Panos
United Kingdom, Hinxton
Wellcome Sanger Institute
Thorleifsson, Gudmar
Iceland, Reykjavik
Decode Genetics
Matthíasson, Stefán E.
Iceland, Reykjavik
Decode Genetics
Thorsteinsdottir, Unnur Arna
Iceland, Reykjavik
Decode Genetics
Golledge, Jonathan
Australia, Townsville
James Cook University
Ariëns, Robert A.S.
United Kingdom, Leeds
University of Leeds
Sohrabi, Soroush
United Kingdom, Leeds
University of Leeds
Carey, David J.
United States, Danville
Geisinger Medical Center
Erdman, Robert A.
United States, Danville
Geisinger Medical Center
Elmore, James R.
United States, Danville
Geisinger Medical Center
Kuivaniemi, Helena
United States, Danville
Geisinger Medical Center
Samani, Nilesh J.
United Kingdom, Leicester
University of Leicester
United Kingdom, Leicester
Glenfield Hospital
Stefánsson, Kári
Iceland, Reykjavik
Decode Genetics
van Rij, Andrè M.
New Zealand, Dunedin
University of Otago
Statistics
Citations: 104
Authors: 32
Affiliations: 16
Identifiers
Doi:
10.1093/hmg/ddt141
ISSN:
14602083
Research Areas
Genetics And Genomics
Noncommunicable Diseases
Study Design
Cohort Study
Case-Control Study
Study Approach
Systematic review