title: Linkage mapping of CVD risk traits in the isolated Norfolk Island population.
abstract: 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 involved 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.
authors.affiliation: Genomics Research Centre, Griffith Institute for Health and Medical Research, Griffith University, Gold Coast PMB 50, GCMC Bundall 9726, Gold Coast, Australia. cbellis@sfbrgenetics.org
authors.forename: C
authors.initials: C
authors.lastname: Bellis
authors.forename: H C
authors.initials: HC
authors.lastname: Cox
authors.forename: T D
authors.initials: TD
authors.lastname: Dyer
authors.forename: J C
authors.initials: JC
authors.lastname: Charlesworth
authors.forename: K N
authors.initials: KN
authors.lastname: Begley
authors.forename: S
authors.initials: S
authors.lastname: Quinlan
authors.forename: R A
authors.initials: RA
authors.lastname: Lea
authors.forename: S C
authors.initials: SC
authors.lastname: Heath
authors.forename: J
authors.initials: J
authors.lastname: Blangero
authors.forename: L R
authors.initials: LR
authors.lastname: Griffiths
mesh_terms: D000328:Adult; D000368:Aged; D002318:Cardiovascular Diseases / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D008542:Melanesia; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D040641:Quantitative Trait Loci; D012307:Risk Factors; D012727:Sex Characteristics