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Sökning: WFRF:(Kathiresan S) > Uppsala universitet

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Numrering	Referens	Omslagsbild	Hitta
1.	Ramdas, S., et al. (författare) A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids 2022 Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 109:8, s. 1366-1387 Tidskriftsartikel (refereegranskat)abstract A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expression quantitative trait locus (eQTL) colocalizations and then add chromatin interaction data to narrow the search for functional genes. Polygenic enrichment analysis across 697 annotations from a host of tissues and cell types confirms the central role of the liver in lipid levels and highlights the selective enrichment of adipose-specific chromatin marks in high-density lipoprotein cholesterol and triglycerides. Overlapping transcription factor (TF) binding sites with lipid-associated loci identifies TFs relevant in lipid biology. In addition, we present an integrative framework to prioritize causal variants at GWAS loci, producing a comprehensive list of candidate causal genes and variants with multiple layers of functional evidence. We highlight two of the prioritized genes, CREBRF and RRBP1, which show convergent evidence across functional datasets supporting their roles in lipid biology.
2.	Lind, Lars, et al. (författare) Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes 2018 Ingår i: Neurology. Genetics. - : LIPPINCOTT WILLIAMS & WILKINS. - 2376-7839. ; 4:6, s. e293- Tidskriftsartikel (refereegranskat)
3.	Graham, SE, et al. (författare) The power of genetic diversity in genome-wide association studies of lipids 2021 Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 600:7890, s. 675- Tidskriftsartikel (refereegranskat)
4.	Mahajan, A, et al. (författare) Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility 2014 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 46:3, s. 234- Tidskriftsartikel (refereegranskat)
5.	Winkler, TW, et al. (författare) Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study 2016 Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 12:6, s. e1006166- Tidskriftsartikel (refereegranskat)
6.	Winkler, TW, et al. (författare) The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study 2015 Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 11:10, s. e1005378- Tidskriftsartikel (refereegranskat)
7.	Almgren, Peter, et al. (författare) Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes 2012 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:9, s. 981- Tidskriftsartikel (refereegranskat)
8.	Ehret, GB, et al. (författare) Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk 2011 Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 478:7367, s. 103-109 Tidskriftsartikel (refereegranskat)
9.	Locke, Adam E, et al. (författare) Genetic studies of body mass index yield new insights for obesity biology. 2015 Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401 Tidskriftsartikel (refereegranskat)abstract Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
10.	Ehret, GB, et al. (författare) The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals 2016 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 48:10, s. 1171-1184 Tidskriftsartikel (refereegranskat)

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Typ av publikation: tidskriftsartikel (43)

Typ av innehåll: refereegranskat (43)

Författare/redaktör: Lind, Lars (28); Kathiresan, Sekar (26); Salomaa, Veikko (22); Loos, Ruth J F (21); Groop, Leif (19); Perola, Markus (19); visa fler...; Melander, Olle (19); Boehnke, Michael (19); Samani, Nilesh J. (19); Gudnason, Vilmundur (19); Boerwinkle, Eric (19); Deloukas, Panos (18); Wareham, Nicholas J. (18); McCarthy, Mark I (18); Luan, Jian'an (18); Gustafsson, Stefan (18); Metspalu, Andres (18); Hayward, Caroline (18); Esko, Tõnu (18); Mohlke, Karen L (17); Ingelsson, Erik (17); Ridker, Paul M. (16); Chasman, Daniel I. (16); Harris, Tamara B (16); Morris, Andrew P. (16); Ingelsson, Erik, 197 ... (16); Laakso, Markku (15); Tuomilehto, Jaakko (15); Thorleifsson, Gudmar (15); Thorsteinsdottir, Un ... (15); Stefansson, Kari (15); Rotter, Jerome I. (15); Kathiresan, S (15); Munroe, Patricia B. (15); Uitterlinden, André ... (15); Schunkert, Heribert (15); Willer, Cristen J (15); Lindgren, Cecilia M. (15); van Duijn, Cornelia ... (14); Langenberg, Claudia (14); Saleheen, Danish (14); Ripatti, Samuli (14); Gieger, Christian (14); Peters, Annette (14); Palmer, Colin N. A. (14); Zhao, Jing Hua (14); Hofman, Albert (14); Erdmann, Jeanette (14); Jackson, Anne U. (14); Collins, Francis S. (14); visa färre...

Lärosäte: Uppsala universitet (43)Ta bort avgränsningen; Karolinska Institutet (35); Lunds universitet (33); Umeå universitet (16); Göteborgs universitet (12); Stockholms universitet (4); visa fler...; Högskolan Dalarna (1); visa färre...

Språk: Engelska (43)

Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (40); Naturvetenskap (9)

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