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Association of gene...
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Folkersen, LasseKarolinska Institutet
(författare)
Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease
- Artikel/kapitelEngelska2010
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Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:uu-131534
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-131534URI
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https://doi.org/10.1161/CIRCGENETICS.110.948935DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:121158047URI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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BACKGROUND: Population-based genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) associated with cardiovascular disease or its risk factors. Genes in close proximity to these risk-SNPs are often thought to be pathogenetically important based on their location alone. However, the actual connections between SNPs and disease mechanisms remain largely unknown. METHODS AND RESULTS: To identify novel susceptibility genes, we investigated how 166 SNPs previously found to be associated with increased cardiovascular risk and/or predisposing metabolic traits relate to the expression of nearby genes. Gene expression in 577 samples of aorta, liver, mammary artery, and carotid atherosclerotic plaque was measured using expression arrays. For 47 SNPs, the expression levels of proximal genes (located within 200 kb) were affected (P<0.005). More than 20 of these genes had not previously been identified as candidate genes for cardiovascular or related metabolic traits. SNP-associated gene effects were tissue-specific and the tissue specificity was phenotype-dependent. CONCLUSIONS: This study demonstrates several instances of association between risk-SNPs and genes immediately adjacent to them. It also demonstrates instances in which the associated gene is not the immediately proximal and obvious candidate gene for disease. This shows the necessity of careful studies of genetic marker data as a first step toward application of genome-wide association studies findings in a clinical setting.
Ämnesord och genrebeteckningar
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genetics
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genes
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myocardial infarction
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molecular biology
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MEDICINE
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MEDICIN
Biuppslag (personer, institutioner, konferenser, titlar ...)
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van't Hooft, FerdinandKarolinska Institutet
(författare)
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Chernogubova, EkaterinaKarolinska Institutet
(författare)
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Agardh, Hanna E.Karolinska Institutet
(författare)
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Hansson, Göran K.Karolinska Institutet
(författare)
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Hedin, UlfKarolinska Institutet
(författare)
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Liska, JanKarolinska Institutet
(författare)
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Syvänen, Ann-ChristineUppsala universitet,Molekylär medicin(Swepub:uu)anncsyva
(författare)
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Paulssson-Berne, GabrielleKarolinska Institutet
(författare)
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Franco-Cereceda, AndersKarolinska Institutet
(författare)
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Hamsten, AndersKarolinska Institutet
(författare)
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Gabrielsen, AndersKarolinska Institutet
(författare)
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Eriksson, PerKarolinska Institutet
(författare)
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Karolinska InstitutetMolekylär medicin
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Circulation3:4, s. 365-3731942-325X1942-3268
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Till lärosätets databas
- Av författaren/redakt...
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Folkersen, Lasse
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van't Hooft, Fer ...
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Chernogubova, Ek ...
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Agardh, Hanna E.
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Hansson, Göran K ...
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Hedin, Ulf
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visa fler...
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Liska, Jan
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Syvänen, Ann-Chr ...
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Paulssson-Berne, ...
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Franco-Cereceda, ...
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Hamsten, Anders
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Gabrielsen, Ande ...
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Eriksson, Per
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visa färre...
- Artiklar i publikationen
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Circulation
- Av lärosätet
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Uppsala universitet
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Karolinska Institutet