Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease
Identifieur interne : 000533 ( Main/Exploration ); précédent : 000532; suivant : 000534Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease
Auteurs : J. S. K. Kauwe [États-Unis] ; S. Bertelsen [États-Unis] ; K. Mayo [États-Unis] ; C. Cruchaga [États-Unis] ; R. Abraham [Royaume-Uni] ; P. Hollingworth [Royaume-Uni] ; D. Harold [Royaume-Uni] ; M. J. Owen [Royaume-Uni] ; J. Williams [Royaume-Uni] ; S. Lovestone [Royaume-Uni] ; J. C. Morris [États-Unis] ; A. M. Goate [États-Unis]Source :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2010-06.
English descriptors
Abstract
Alzheimer's disease (AD) is a complex disease that is likely influenced by many genetic and environmental factors. Citing evidence that iron may play a role in AD pathology, Robson et al. [Robson et al. (2004); J Med Genet 41:261–265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. In this study we attempted to replicate their findings in a total of 1,166 cases and 1,404 controls from three European and European American populations. Allele and genotype frequencies were consistent across the three populations. Using synergy factor analysis (SFA) and Logistic Regression analysis we tested each population and the combined sample for interactions between these two SNPs and risk for AD. We observed significant association between bi‐carriers of the minor alleles of rs1049296 and rs1800562 in the combined sample using SFA (P = 0.0016, synergy factor = 2.71) and adjusted SFA adjusting for age and presence of the APOE epsilon 4 allele (P = 0.002, OR = 2.4). These results validate those of the previous report and support the hypothesis that iron transport and regulation play a role in AD pathology. © 2009 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.31053
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Hollingworth</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Harold, D" sort="Harold, D" uniqKey="Harold D" first="D." last="Harold">D. Harold</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Owen, M J" sort="Owen, M J" uniqKey="Owen M" first="M. J." last="Owen">M. J. Owen</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Williams, J" sort="Williams, J" uniqKey="Williams J" first="J." last="Williams">J. Williams</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Lovestone, S" sort="Lovestone, S" uniqKey="Lovestone S" first="S." last="Lovestone">S. 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Genet.</title><idno type="ISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-06">2010-06</date><biblScope unit="volume">153B</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="955">955</biblScope><biblScope unit="page" to="959">959</biblScope></imprint><idno type="ISSN">1552-4841</idno></series><idno type="istex">9ECBDF207BCE2D318332DA8C420BEFDB7BEF7BB1</idno><idno type="DOI">10.1002/ajmg.b.31053</idno><idno type="ArticleID">AJMG31053</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4841</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alzheimer's disease</term><term>epistasis</term><term>genetic association</term><term>hemachromatosis gene</term><term>transferrin</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">Alzheimer's disease (AD) is a complex disease that is likely influenced by many genetic and environmental factors. Citing evidence that iron may play a role in AD pathology, Robson et al. [Robson et al. (2004); J Med Genet 41:261–265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. In this study we attempted to replicate their findings in a total of 1,166 cases and 1,404 controls from three European and European American populations. Allele and genotype frequencies were consistent across the three populations. Using synergy factor analysis (SFA) and Logistic Regression analysis we tested each population and the combined sample for interactions between these two SNPs and risk for AD. We observed significant association between bi‐carriers of the minor alleles of rs1049296 and rs1800562 in the combined sample using SFA (P = 0.0016, synergy factor = 2.71) and adjusted SFA adjusting for age and presence of the APOE epsilon 4 allele (P = 0.002, OR = 2.4). These results validate those of the previous report and support the hypothesis that iron transport and regulation play a role in AD pathology. © 2009 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Missouri (État)</li><li>Utah</li></region><settlement><li>Londres</li></settlement></list><tree><country name="États-Unis"><region name="Missouri (État)"><name sortKey="Kauwe, J S K" sort="Kauwe, J S K" uniqKey="Kauwe J" first="J. S. K." last="Kauwe">J. S. K. Kauwe</name></region><name sortKey="Bertelsen, S" sort="Bertelsen, S" uniqKey="Bertelsen S" first="S." last="Bertelsen">S. Bertelsen</name><name sortKey="Cruchaga, C" sort="Cruchaga, C" uniqKey="Cruchaga C" first="C." last="Cruchaga">C. Cruchaga</name><name sortKey="Goate, A M" sort="Goate, A M" uniqKey="Goate A" first="A. M." last="Goate">A. M. Goate</name><name sortKey="Kauwe, J S K" sort="Kauwe, J S K" uniqKey="Kauwe J" first="J. S. K." last="Kauwe">J. S. K. Kauwe</name><name sortKey="Mayo, K" sort="Mayo, K" uniqKey="Mayo K" first="K." last="Mayo">K. Mayo</name><name sortKey="Morris, J C" sort="Morris, J C" uniqKey="Morris J" first="J. C." last="Morris">J. C. Morris</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Abraham, R" sort="Abraham, R" uniqKey="Abraham R" first="R." last="Abraham">R. Abraham</name></noRegion><name sortKey="Harold, D" sort="Harold, D" uniqKey="Harold D" first="D." last="Harold">D. Harold</name><name sortKey="Hollingworth, P" sort="Hollingworth, P" uniqKey="Hollingworth P" first="P." last="Hollingworth">P. Hollingworth</name><name sortKey="Lovestone, S" sort="Lovestone, S" uniqKey="Lovestone S" first="S." last="Lovestone">S. Lovestone</name><name sortKey="Owen, M J" sort="Owen, M J" uniqKey="Owen M" first="M. J." last="Owen">M. J. Owen</name><name sortKey="Williams, J" sort="Williams, J" uniqKey="Williams J" first="J." last="Williams">J. Williams</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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