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Träfflista för sökning "WFRF:(Zeggini E) "

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Resultat 11-20 av 95

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Numrering	Referens	Omslagsbild	Hitta
11.	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)
12.	Marouli, Eirini, et al. (författare) Rare and low-frequency coding variants alter human adult height 2017 Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190 Tidskriftsartikel (refereegranskat)abstract Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
13.	Yengo, L, et al. (författare) A saturated map of common genetic variants associated with human height 2022 Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 610:7933, s. 704- Tidskriftsartikel (refereegranskat)
14.	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)
15.	Chen, J, et al. (författare) The trans-ancestral genomic architecture of glycemic traits 2021 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 53:6, s. 840- Tidskriftsartikel (refereegranskat)
16.	Duncan, L, et al. (författare) Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa 2017 Ingår i: The American journal of psychiatry. - : American Psychiatric Association Publishing. - 1535-7228 .- 0002-953X. ; 174:9, s. 850-858 Tidskriftsartikel (refereegranskat)
17.	Graham, SE, et al. (författare) Author Correction: The power of genetic diversity in genome-wide association studies of lipids 2023 Ingår i: Nature. - 1476-4687. ; 618:7965, s. E19-E20 Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
18.	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)
19.	Yao, SY, et al. (författare) Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches 2019 Ingår i: Biological psychiatry. - : Elsevier BV. - 1873-2402 .- 0006-3223. ; 86:8, s. 577-586 Tidskriftsartikel (refereegranskat)
20.	Craddock, Nick, et al. (författare) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls 2010 Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720 Tidskriftsartikel (refereegranskat)abstract Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.

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Resultat 11-20 av 95

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Typ av publikation: tidskriftsartikel (90); konferensbidrag (5)

Typ av innehåll: refereegranskat (86); övrigt vetenskapligt/konstnärligt (9)

Författare/redaktör: Zeggini, E (48); Zeggini, Eleftheria (47); Lind, Lars (33); McCarthy, Mark I (30); Langenberg, Claudia (30); Wareham, Nicholas J. (29); visa fler...; Dedoussis, G. (27); Boehnke, Michael (26); Mohlke, Karen L (26); Mahajan, Anubha (25); Groop, Leif (23); Laakso, Markku (23); Grarup, Niels (23); Hansen, Torben (23); Tuomilehto, Jaakko (23); Deloukas, Panos (22); Pedersen, Oluf (22); Loos, Ruth J F (22); Langenberg, C. (21); Salomaa, Veikko (21); Scott, Robert A (21); Palmer, Colin N. A. (21); Hayward, C. (21); Hayward, Caroline (21); Luan, Jian'an (20); Uitterlinden, André ... (20); Frayling, Timothy M (20); Franks, Paul W. (19); Kuusisto, Johanna (19); Linneberg, Allan (19); van Duijn, Cornelia ... (19); Jarvelin, Marjo-Riit ... (19); Hattersley, Andrew T (19); Metspalu, A (19); Morris, AP (19); Ntalla, I (19); Polasek, Ozren (19); Thorleifsson, Gudmar (18); Stefansson, Kari (18); Gieger, Christian (18); Wilson, James F. (18); Elliott, Paul (18); Raitakari, Olli T (17); Thorsteinsdottir, Un ... (17); Wilson, JF (17); Gieger, C (17); Ripatti, S (17); Deary, Ian J (17); Morris, Andrew D (17); Esko, Tõnu (17); visa färre...

Lärosäte: Karolinska Institutet (63); Uppsala universitet (41); Lunds universitet (40); Göteborgs universitet (23); Umeå universitet (23); Stockholms universitet (6); visa fler...; Mittuniversitetet (4); Örebro universitet (3); Kungliga Tekniska Högskolan (1); Handelshögskolan i Stockholm (1); visa färre...

Språk: Engelska (95)

Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (63); Naturvetenskap (15); Samhällsvetenskap (1)

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