Linkage mapping of CVD risk traits in the isolated Norfolk Island population
Identifieur interne : 008C18 ( Main/Exploration ); précédent : 008C17; suivant : 008C19Linkage mapping of CVD risk traits in the isolated Norfolk Island population
Auteurs : C. Bellis [Australie, États-Unis] ; H. C. Cox [Australie] ; T. D. Dyer [États-Unis] ; J. C. Charlesworth [États-Unis] ; K. N. Begley [Australie] ; S. Quinlan [Australie] ; R. A. Lea [Australie, Pays-Bas] ; S. C. Heath [France] ; J. Blangero [États-Unis] ; L. R. Griffiths [Australie]Source :
- Human genetics [ 0340-6717 ] ; 2008.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique.
English descriptors
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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 lp36 for systolic blood pressure and replicated previously implicated loci for other CVD relevant QTLs.
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Bellis</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Griffith Institute for Health and Medical Research, Griffith University, Gold Coast PMB 50, GCMC Bundall 9726</s1><s2>Gold Coast</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Gold Coast</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Genetics, Southwest Foundation for Biomedical Research</s1><s2>San Antonio 78227</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>San Antonio 78227</wicri:noRegion></affiliation></author><author><name sortKey="Cox, H C" sort="Cox, H C" uniqKey="Cox H" first="H. C." last="Cox">H. C. Cox</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Griffith Institute for Health and Medical Research, Griffith University, Gold Coast PMB 50, GCMC Bundall 9726</s1><s2>Gold Coast</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Gold Coast</wicri:noRegion></affiliation></author><author><name sortKey="Dyer, T D" sort="Dyer, T D" uniqKey="Dyer T" first="T. D." last="Dyer">T. D. Dyer</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Genetics, Southwest Foundation for Biomedical Research</s1><s2>San Antonio 78227</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>San Antonio 78227</wicri:noRegion></affiliation></author><author><name sortKey="Charlesworth, J C" sort="Charlesworth, J C" uniqKey="Charlesworth J" first="J. C." last="Charlesworth">J. C. Charlesworth</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Genetics, Southwest Foundation for Biomedical Research</s1><s2>San Antonio 78227</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>San Antonio 78227</wicri:noRegion></affiliation></author><author><name sortKey="Begley, K N" sort="Begley, K N" uniqKey="Begley K" first="K. N." last="Begley">K. N. Begley</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Division of Information Services, Griffith University</s1><s2>Gold Coast</s2><s3>AUS</s3><sZ>5 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Gold Coast</wicri:noRegion></affiliation></author><author><name sortKey="Quinlan, S" sort="Quinlan, S" uniqKey="Quinlan S" first="S." last="Quinlan">S. Quinlan</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Griffith Institute for Health and Medical Research, Griffith University, Gold Coast PMB 50, GCMC Bundall 9726</s1><s2>Gold Coast</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Gold Coast</wicri:noRegion></affiliation></author><author><name sortKey="Lea, R A" sort="Lea, R A" uniqKey="Lea R" first="R. A." last="Lea">R. A. Lea</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Griffith Institute for Health and Medical Research, Griffith University, Gold Coast PMB 50, GCMC Bundall 9726</s1><s2>Gold Coast</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Gold Coast</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Institute of Environmental Science and Research Ltd</s1><s2>Porirua</s2><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Institute of Environmental Science and Research Ltd</wicri:noRegion></affiliation></author><author><name sortKey="Heath, S C" sort="Heath, S C" uniqKey="Heath S" first="S. C." last="Heath">S. C. Heath</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Centre National de Génotypage, 2 Rue Gaston Cremieux</s1><s2>Evry</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Évry (Essonne)</settlement></placeName></affiliation></author><author><name sortKey="Blangero, J" sort="Blangero, J" uniqKey="Blangero J" first="J." last="Blangero">J. Blangero</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Genetics, Southwest Foundation for Biomedical Research</s1><s2>San Antonio 78227</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>San Antonio 78227</wicri:noRegion></affiliation></author><author><name sortKey="Griffiths, L R" sort="Griffiths, L R" uniqKey="Griffiths L" first="L. R." last="Griffiths">L. R. Griffiths</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Griffith Institute for Health and Medical Research, Griffith University, Gold Coast PMB 50, GCMC Bundall 9726</s1><s2>Gold Coast</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Gold Coast</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Human genetics</title><title level="j" type="abbreviated">Hum. genet.</title><idno type="ISSN">0340-6717</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Human genetics</title><title level="j" type="abbreviated">Hum. genet.</title><idno type="ISSN">0340-6717</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic linkage</term><term>Genetic mapping</term><term>Genetics</term><term>Risk</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Carte génétique</term><term>Liaison génétique</term><term>Risque</term><term>Génétique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 lp36 for systolic blood pressure and replicated previously implicated loci for other CVD relevant QTLs.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Pays-Bas</li><li>États-Unis</li></country><region><li>Île-de-France</li></region><settlement><li>Évry (Essonne)</li></settlement></list><tree><country name="Australie"><noRegion><name sortKey="Bellis, C" sort="Bellis, C" uniqKey="Bellis C" first="C." last="Bellis">C. Bellis</name></noRegion><name sortKey="Begley, K N" sort="Begley, K N" uniqKey="Begley K" first="K. N." last="Begley">K. N. Begley</name><name sortKey="Cox, H C" sort="Cox, H C" uniqKey="Cox H" first="H. C." last="Cox">H. C. Cox</name><name sortKey="Griffiths, L R" sort="Griffiths, L R" uniqKey="Griffiths L" first="L. R." last="Griffiths">L. R. Griffiths</name><name sortKey="Lea, R A" sort="Lea, R A" uniqKey="Lea R" first="R. A." last="Lea">R. A. Lea</name><name sortKey="Quinlan, S" sort="Quinlan, S" uniqKey="Quinlan S" first="S." last="Quinlan">S. Quinlan</name></country><country name="États-Unis"><noRegion><name sortKey="Bellis, C" sort="Bellis, C" uniqKey="Bellis C" first="C." last="Bellis">C. Bellis</name></noRegion><name sortKey="Blangero, J" sort="Blangero, J" uniqKey="Blangero J" first="J." last="Blangero">J. Blangero</name><name sortKey="Charlesworth, J C" sort="Charlesworth, J C" uniqKey="Charlesworth J" first="J. C." last="Charlesworth">J. C. Charlesworth</name><name sortKey="Dyer, T D" sort="Dyer, T D" uniqKey="Dyer T" first="T. D." last="Dyer">T. D. Dyer</name></country><country name="Pays-Bas"><noRegion><name sortKey="Lea, R A" sort="Lea, R A" uniqKey="Lea R" first="R. A." last="Lea">R. A. Lea</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Heath, S C" sort="Heath, S C" uniqKey="Heath S" first="S. C." last="Heath">S. C. 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