SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Milani Lili) "

Sökning: WFRF:(Milani Lili)

  • Resultat 51-54 av 54
  • Föregående 12345[6]
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
51.
  • Wood, Andrew R, et al. (författare)
  • Defining the role of common variation in the genomic and biological architecture of adult human height
  • 2014
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 46:11, s. 1173-1186
  • Tidskriftsartikel (refereegranskat)abstract
    • Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
52.
  • Yang, Jian, et al. (författare)
  • Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index
  • 2015
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 47:10, s. 1114-1120
  • Tidskriftsartikel (refereegranskat)abstract
    • We propose a method (GREML-LDMS) to estimate heritability for human complex traits in unrelated individuals using whole-genome sequencing data. We demonstrate using simulations based on whole-genome sequencing data that similar to 97% and similar to 68% of variation at common and rare variants, respectively, can be captured by imputation. Using the GREML-LDMS method, we estimate from 44,126 unrelated individuals that all similar to 17 million imputed variants explain 56% (standard error (s.e.) = 2.3%) of variance for height and 27% (s.e. = 2.5%) of variance for body mass index (BMI), and we find evidence that height- and BMI-associated variants have been under natural selection. Considering the imperfect tagging of imputation and potential overestimation of heritability from previous family-based studies, heritability is likely to be 60-70% for height and 30-40% for BMI. Therefore, the missing heritability is small for both traits. For further discovery of genes associated with complex traits, a study design with SNP arrays followed by imputation is more cost-effective than whole-genome sequencing at current prices.
  •  
53.
  • Yang, Jian, et al. (författare)
  • Genome-wide genetic homogeneity between sexes and populations for human height and body mass index
  • 2015
  • Ingår i: Human Molecular Genetics. - 0964-6906 .- 1460-2083. ; 24:25, s. 7445-7449
  • Tidskriftsartikel (refereegranskat)abstract
    • Sex-specific genetic effects have been proposed to be an important source of variation for human complex traits. Here we use two distinct genome-wide methods to estimate the autosomal genetic correlation (rg) between men and women for human height and body mass index (BMI), using individual-level (n = ∼44 000) and summary-level (n = ∼133 000) data from genome-wide association studies. Results are consistent and show that the between-sex genetic correlation is not significantly different from unity for both traits. In contrast, we find evidence of genetic heterogeneity between sexes for waist-hip ratio (rg = ∼0.7) and between populations for BMI (rg = ∼0.9 between Europe and the USA) but not for height. The lack of evidence for substantial genetic heterogeneity for body size is consistent with empirical findings across traits and species.
  •  
54.
  • Zhou, Yitian, et al. (författare)
  • Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk
  • 2018
  • Ingår i: Journal of Lipid Research. - AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. - 0022-2275 .- 1539-7262. ; 59:10, s. 1987-2000
  • Tidskriftsartikel (refereegranskat)abstract
    • Abnormal plasma apolipoprotein levels are consistently implicated in CVD risk. Although 30% to 60% of their interindividual variability is genetic, common genetic variants explain only 10% to 20% of these differences. Rare genetic variants may be major sources of the missing heritability, yet quantitative evaluations of their contribution to phenotypic variability are lacking. Here, we analyzed whole-genome and whole-exome sequencing data from 138,632 individuals across seven major human populations to present a systematic overview of genetic apolipoprotein variability. We provide population-specific frequencies of 38 clinically important apolipoprotein alleles and identify further 6,875 genetic variants, 33% of which are novel and 98.7% of which are rare with minor allele frequencies <1%. We predicted the functional impact of rare variants and found that their relative importance differed drastically between genes and among ethnicities. Importantly, we validated the clinical relevance of multiple variants with predicted effects by leveraging association data from the CARDIoGRAM (Coronary Artery Disease Genomewide Replication and Meta-analysis) and Global Lipids Genetics consortia. Overall, we provide a consolidated overview of population-specific apolipoprotein genetics as a valuable data resource for scientists and clinicians, estimate the importance of rare genetic variants for the missing heritability of apolipoprotein-associated disease traits, and pinpoint multiple novel apolipoprotein variants with putative population-specific impacts on serum lipid levels.
Skapa referenser, mejla, bekava och länka
  • Resultat 51-54 av 54
  • Föregående 12345[6]
Åtkomst
fritt online (18)
Typ av publikation
tidskriftsartikel (53)
doktorsavhandling (1)
Typ av innehåll
refereegranskat (51)
övrigt vetenskapligt (2)
populärvet., debatt m.m. (1)
Författare/redaktör
Esko, Tonu (34)
Metspalu, Andres (33)
Gieger, Christian (22)
Salomaa, Veikko (21)
Hayward, Caroline (19)
Hofman, Albert, (17)
visa fler...
Montgomery, Grant W. ... (17)
Uitterlinden, Andre ... (17)
Langenberg, Claudia (17)
Magnusson, Patrik K ... (17)
Scott, Robert A (17)
Peters, Annette (17)
Jackson, Anne U. (17)
Boehnke, Michael (16)
Harris, Tamara B. (16)
Syvänen, Ann-Christi ... (15)
Wareham, Nicholas J. (15)
Kuusisto, Johanna, (15)
Nolte, Ilja M (15)
Froguel, Philippe, (14)
Raitakari, Olli T (14)
Amin, Najaf, (14)
Teumer, Alexander, (14)
Gudnason, Vilmundur, (14)
Stancáková, Alena, (14)
Laakso, Markku, (14)
Mangino, Massimo (14)
Strauch, Konstantin (14)
Morris, Andrew P. (14)
Rudan, Igor (14)
Lind, Lars, (13)
Boomsma, Dorret I., (13)
Van Duijn, Cornelia ... (13)
Martin, Nicholas G., (13)
Deloukas, Panos (13)
Chasman, Daniel I., (13)
Rose, Lynda M (13)
Yang, Jian (13)
Luan, Jian'an (13)
Feitosa, Mary F. (13)
Prokopenko, Inga (13)
Kutalik, Zoltan (13)
Zhao, Jing Hua (13)
Eriksson, Johan G. (13)
Stringham, Heather M ... (13)
Collins, Francis S. (13)
Visscher, Peter M. (13)
Stefansson, Kari (13)
van der Harst, Pim (13)
Franke, Lude (13)
visa färre...
Lärosäte
Uppsala universitet (41)
Karolinska Institutet (34)
Umeå universitet (21)
Lunds universitet (18)
Göteborgs universitet (14)
Högskolan Dalarna (3)
visa fler...
Kungliga Tekniska Högskolan (2)
Stockholms universitet (2)
Sveriges Lantbruksuniversitet (1)
visa färre...
Språk
Engelska (54)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (52)
Naturvetenskap (9)
Teknik (1)
Lantbruksvetenskap (1)
Samhällsvetenskap (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy