SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Cocca Massimiliano) "

Sökning: WFRF:(Cocca Massimiliano)

  • Resultat 11-15 av 15
  • Föregående 1[2]
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
11.
  • Marouli, Eirini, et al. (författare)
  • Rare and low-frequency coding variants alter human adult height
  • 2017
  • Ingår i: Nature. - : Nature Publishing Group. - 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.
  •  
12.
  • McCarthy, Shane, et al. (författare)
  • A reference panel of 64,976 haplotypes for genotype imputation
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036. ; 48:10, s. 1279-1283
  • Tidskriftsartikel (refereegranskat)abstract
    • We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.
  •  
13.
  • Pattaro, Cristian, et al. (författare)
  • Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
  • 2016
  • Ingår i: Nature Communications. - 2041-1723 .- 2041-1723. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
  •  
14.
  • 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.
  •  
15.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 11-15 av 15
  • Föregående 1[2]
Typ av publikation
tidskriftsartikel (15)
Typ av innehåll
refereegranskat (15)
Författare/redaktör
Teumer, Alexander (13)
Gudnason, Vilmundur (13)
Uitterlinden, Andre ... (13)
Loos, Ruth J F (13)
Harris, Tamara B (13)
Gasparini, Paolo (13)
visa fler...
Bottinger, Erwin P. (13)
Raitakari, Olli T (12)
van der Most, Peter ... (12)
Boerwinkle, Eric (12)
Robino, Antonietta (12)
Rotter, Jerome I. (11)
Ridker, Paul M. (11)
Chasman, Daniel I. (11)
Rudan, Igor (11)
Franco, Oscar H (11)
Polašek, Ozren (11)
Hayward, Caroline (11)
Snieder, Harold (11)
Mahajan, Anubha (11)
Esko, Tonu (11)
Taylor, Kent D. (11)
Smith, Albert V. (10)
Van Duijn, Cornelia ... (10)
Chu, Audrey Y (10)
Boehnke, Michael (10)
Gieger, Christian (10)
Metspalu, Andres (10)
van der Harst, Pim (10)
Liu, Yongmei (10)
Hwang, Shih-Jen (10)
Nalls, Mike A. (10)
Lu, Yingchang (10)
Feitosa, Mary F. (10)
Zhang, Weihua (10)
Lind, Lars (9)
Psaty, Bruce M. (9)
Peters, Annette (9)
Strauch, Konstantin (9)
Munroe, Patricia B. (9)
Padmanabhan, Sandosh (9)
Lehtimaki, Terho (9)
Marten, Jonathan (9)
Vitart, Veronique (9)
Morris, Andrew P (9)
Elliott, Paul (9)
Heid, Iris M (9)
Gandin, Ilaria (9)
de Mutsert, Renee (9)
Giedraitis, Vilmanta ... (9)
visa färre...
Lärosäte
Uppsala universitet (8)
Lunds universitet (6)
Umeå universitet (4)
Högskolan Dalarna (3)
Stockholms universitet (2)
Karolinska Institutet (2)
visa fler...
Göteborgs universitet (1)
visa färre...
Språk
Engelska (15)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (14)
Naturvetenskap (5)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy