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Linkage mapping of CVD risk traits in the isolated Norfolk Island population


Bellis, C and Cox, HC and Dyer, TD and Charlesworth, JC and Begley, KN and Quinlan, S and Lea, RA and Heath, SC and Blangero, J and Griffiths, LR, Linkage mapping of CVD risk traits in the isolated Norfolk Island population , Human Genetics, 124, (5) pp. 543-552. ISSN 0340-6717 (2008) [Refereed Article]

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DOI: doi:10.1007/s00439-008-0580-y


To understand the underlying genetic architecture of cardiovascular disease (CVD) risk traits, we undertook a genome-wide linkage scan to identify CVD quantitative trait loci (QTLs) in 377 individuals from the Norfolk Island population. The central aim of this research focused on the utilization of a genetically and geographically isolated population of individuals from Norfolk Island for the purposes of variance component linkage analysis to identify QTLs nvolved in CVD risk traits. Substantial evidence supports the involvement of traits such as systolic and diastolic blood pressures, high-density lipoprotein-cholesterol, low-density lipoprotein-cholesterol, body mass index and triglycerides as important risk factors for CVD pathogenesis. In addition to the environmental influences of poor diet, reduced physical activity, increasing age, cigarette smoking and alcohol consumption, many studies have illustrated a strong involvement of genetic components in the CVD phenotype through family and twin studies. We undertook a genome scan using 400 markers spaced approximately 10 cM in 600 individuals from Norfolk Island. Genotype data was analyzed using the variance components methods of SOLAR. Our results gave a peak LOD score of 2.01 localizing to chromosome 1p36 for systolic blood pressure and replicated previously implicated loci for other CVD relevant QTLs

Item Details

Item Type:Refereed Article
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Genomics
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Charlesworth, JC (Dr Jac Charlesworth)
ID Code:73574
Year Published:2008
Web of Science® Times Cited:19
Deposited By:Research Division
Deposited On:2011-10-17
Last Modified:2015-02-05

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