SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Evangelou E) "

Sökning: WFRF:(Evangelou E)

  • Resultat 1-10 av 49
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Kanai, M, et al. (författare)
  • 2023
  • swepub:Mat__t
  •  
2.
  •  
3.
  • 2019
  • Tidskriftsartikel (refereegranskat)
  •  
4.
  • Davies, G., et al. (författare)
  • Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
  • 2018
  • Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 9:1
  • Tidskriftsartikel (refereegranskat)abstract
    • General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10-8) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cognitive function. Expression levels across the cortex are associated with general cognitive function. Using polygenic scores, up to 4.3% of variance in general cognitive function is predicted in independent samples. We detect significant genetic overlap between general cognitive function, reaction time, and many health variables including eyesight, hypertension, and longevity. In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function.
  •  
5.
  • Turcot, Valerie, et al. (författare)
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
  • 2018
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
  •  
6.
  •  
7.
  • 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.
  •  
8.
  • de Vries, Paul S., et al. (författare)
  • Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions
  • 2019
  • Ingår i: American Journal of Epidemiology. - : Oxford University Press. - 0002-9262 .- 1476-6256. ; 188:6, s. 1033-1054
  • Tidskriftsartikel (refereegranskat)abstract
    • A person's lipid profile is influenced by genetic variants and alcohol consumption, but the contribution of interactions between these exposures has not been studied. We therefore incorporated gene-alcohol interactions into a multiancestry genome-wide association study of levels of high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. We included 45 studies in stage 1 (genome-wide discovery) and 66 studies in stage 2 (focused follow-up), for a total of 394,584 individuals from 5 ancestry groups. Analyses covered the period July 2014-November 2017. Genetic main effects and interaction effects were jointly assessed by means of a 2-degrees-of-freedom (df) test, and a 1-df test was used to assess the interaction effects alone. Variants at 495 loci were at least suggestively associated (P < 1 x 10(-6)) with lipid levels in stage 1 and were evaluated in stage 2, followed by combined analyses of stage 1 and stage 2. In the combined analysis of stages 1 and 2, a total of 147 independent loci were associated with lipid levels at P < 5 x 10(-8) using 2-df tests, of which 18 were novel. No genome-wide-significant associations were found testing the interaction effect alone. The novel loci included several genes (proprotein convertase subtilisin/kexin type 5 (PCSK5), vascular endothelial growth factor B (VEGFB), and apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1) complementation factor (A1CF)) that have a putative role in lipid metabolism on the basis of existing evidence from cellular and experimental models.
  •  
9.
  •  
10.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 49
Typ av publikation
tidskriftsartikel (47)
forskningsöversikt (1)
Typ av innehåll
refereegranskat (47)
övrigt vetenskapligt/konstnärligt (1)
Författare/redaktör
Evangelou, E (20)
Franks, Paul W. (15)
Samani, Nilesh J. (15)
Elliott, Paul (15)
Esko, Tõnu (15)
Chasman, Daniel I. (14)
visa fler...
Langenberg, Claudia (14)
Rotter, Jerome I. (14)
Luan, Jian'an (14)
Munroe, Patricia B. (14)
Starr, John M (14)
Uitterlinden, André ... (14)
Hayward, Caroline (14)
Wareham, Nicholas J. (13)
Ridker, Paul M. (13)
Boehnke, Michael (13)
Caulfield, Mark J. (13)
Deary, Ian J (13)
Gudnason, Vilmundur (13)
Rudan, Igor (12)
Laakso, Markku (12)
Harris, Tamara B (12)
Liu, Yongmei (12)
Zeggini, Eleftheria (12)
Polasek, Ozren (12)
Lind, Lars (11)
Deloukas, Panos (11)
Elliott, P (11)
van Duijn, Cornelia ... (11)
Scott, Robert A (11)
Zhao, Wei (11)
Nelson, Christopher ... (11)
Zhao, Jing Hua (11)
Harris, Sarah E (11)
Boerwinkle, Eric (11)
van der Harst, Pim (11)
Lakka, Timo A (11)
Rauramaa, Rainer (11)
Mook-Kanamori, Denni ... (11)
Amin, N (10)
Salomaa, Veikko (10)
Metspalu, Andres (10)
Padmanabhan, Sandosh (10)
Hayward, C. (10)
Fornage, Myriam (10)
Kardia, Sharon L R (10)
Jackson, Anne U. (10)
Manning, Alisa K. (10)
Jukema, J. Wouter (10)
Taylor, Kent D. (10)
visa färre...
Lärosäte
Karolinska Institutet (21)
Umeå universitet (17)
Lunds universitet (15)
Uppsala universitet (9)
Göteborgs universitet (7)
Linköpings universitet (5)
visa fler...
Stockholms universitet (3)
Högskolan Kristianstad (1)
Jönköping University (1)
Chalmers tekniska högskola (1)
visa färre...
Språk
Engelska (49)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (36)
Naturvetenskap (7)
Samhällsvetenskap (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy