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  • 1
    Publication Date: 2007-05-05
    Description: The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases and 12,767 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance. Approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardial infarction is 1.64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Helgadottir, Anna -- Thorleifsson, Gudmar -- Manolescu, Andrei -- Gretarsdottir, Solveig -- Blondal, Thorarinn -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Sigurdsson, Asgeir -- Baker, Adam -- Palsson, Arnar -- Masson, Gisli -- Gudbjartsson, Daniel F -- Magnusson, Kristinn P -- Andersen, Karl -- Levey, Allan I -- Backman, Valgerdur M -- Matthiasdottir, Sigurborg -- Jonsdottir, Thorbjorg -- Palsson, Stefan -- Einarsdottir, Helga -- Gunnarsdottir, Steinunn -- Gylfason, Arnaldur -- Vaccarino, Viola -- Hooper, W Craig -- Reilly, Muredach P -- Granger, Christopher B -- Austin, Harland -- Rader, Daniel J -- Shah, Svati H -- Quyyumi, Arshed A -- Gulcher, Jeffrey R -- Thorgeirsson, Gudmundur -- Thorsteinsdottir, Unnur -- Kong, Augustine -- Stefansson, Kari -- New York, N.Y. -- Science. 2007 Jun 8;316(5830):1491-3. Epub 2007 May 3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17478679" target="_blank"〉PubMed〈/a〉
    Keywords: Age of Onset ; Aged ; Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 9/*genetics ; Coronary Artery Disease/genetics ; Female ; Genes, p16 ; *Genetic Predisposition to Disease ; *Genetic Variation ; Genotype ; Haplotypes ; Heterozygote ; Homozygote ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Myocardial Infarction/*genetics ; *Polymorphism, Single Nucleotide ; Risk Factors
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 2008-03-18
    Description: Common human diseases result from the interplay of many genes and environmental factors. Therefore, a more integrative biology approach is needed to unravel the complexity and causes of such diseases. To elucidate the complexity of common human diseases such as obesity, we have analysed the expression of 23,720 transcripts in large population-based blood and adipose tissue cohorts comprehensively assessed for various phenotypes, including traits related to clinical obesity. In contrast to the blood expression profiles, we observed a marked correlation between gene expression in adipose tissue and obesity-related traits. Genome-wide linkage and association mapping revealed a highly significant genetic component to gene expression traits, including a strong genetic effect of proximal (cis) signals, with 50% of the cis signals overlapping between the two tissues profiled. Here we demonstrate an extensive transcriptional network constructed from the human adipose data that exhibits significant overlap with similar network modules constructed from mouse adipose data. A core network module in humans and mice was identified that is enriched for genes involved in the inflammatory and immune response and has been found to be causally associated to obesity-related traits.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Emilsson, Valur -- Thorleifsson, Gudmar -- Zhang, Bin -- Leonardson, Amy S -- Zink, Florian -- Zhu, Jun -- Carlson, Sonia -- Helgason, Agnar -- Walters, G Bragi -- Gunnarsdottir, Steinunn -- Mouy, Magali -- Steinthorsdottir, Valgerdur -- Eiriksdottir, Gudrun H -- Bjornsdottir, Gyda -- Reynisdottir, Inga -- Gudbjartsson, Daniel -- Helgadottir, Anna -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Styrkarsdottir, Unnur -- Gretarsdottir, Solveig -- Magnusson, Kristinn P -- Stefansson, Hreinn -- Fossdal, Ragnheidur -- Kristjansson, Kristleifur -- Gislason, Hjortur G -- Stefansson, Tryggvi -- Leifsson, Bjorn G -- Thorsteinsdottir, Unnur -- Lamb, John R -- Gulcher, Jeffrey R -- Reitman, Marc L -- Kong, Augustine -- Schadt, Eric E -- Stefansson, Kari -- England -- Nature. 2008 Mar 27;452(7186):423-8. doi: 10.1038/nature06758. Epub 2008 Mar 16.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE genetics, 101 Reykjavik, Iceland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18344981" target="_blank"〉PubMed〈/a〉
    Keywords: Adipose Tissue/metabolism ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Animals ; Blood/metabolism ; Body Mass Index ; Cohort Studies ; European Continental Ancestry Group/genetics ; Female ; *Gene Expression Profiling ; Gene Expression Regulation/*genetics ; Genome, Human ; Humans ; Iceland ; Lod Score ; Male ; Mice ; Middle Aged ; Obesity/*genetics ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait Loci/genetics ; Sample Size ; Waist-Hip Ratio
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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