SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(van der Schouw Yvonne T.) "

Sökning: WFRF:(van der Schouw Yvonne T.)

Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Tidskriftsartikel (refereegranskat)
  •  
2.
  • Tidskriftsartikel (refereegranskat)
  •  
3.
  • Gaulton, Kyle J., et al. (författare)
  • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
  • 2015
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 47:12, s. 1415-
  • Tidskriftsartikel (refereegranskat)abstract
    • We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
  •  
4.
  • Tidskriftsartikel (refereegranskat)
  •  
5.
  • Tidskriftsartikel (refereegranskat)
  •  
6.
  •  
7.
  • Saxena, Richa, et al. (författare)
  • Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
  • 2012
  • Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 90:3, s. 410-425
  • Tidskriftsartikel (refereegranskat)abstract
    • To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom similar to 50,000 SNP genotyping array (the ITMAT-Broad-CARe array) with similar to 2000 candidate genes in 39 multiethnic population-based studies, case-control studies, and clinical trials totaling 17,418 cases and 70,298 controls. First, meta-analysis of 25 studies comprising 14,073 cases and 57,489 controls of European descent confirmed eight established T2D loci at genome-wide significance. In silico follow-up analysis of putative association signals found in independent genome-wide association studies (including 8,130 cases and 38,987 controls) performed by the DIAGRAM consortium identified a T2D locus at genome-wide significance (GATAD2A/CILP2/PBX4; p = 5.7 x 10(-9)) and two loci exceeding study-wide significance (SREBF1, and TH/INS; p < 2.4 x 10(-6)). Second, meta-analyses of 1,986 cases and 7,695 controls from eight African-American studies identified study-wide-significant (p = 2.4 x 10(-7)) variants in HMGA2 and replicated variants in TCF7L2 (p = 5.1 x 10(-15)). Third, conditional analysis revealed multiple known and novel independent signals within five T2D-associated genes in samples of European ancestry and within HMGA2 in African-American samples. Fourth, a multiethnic meta-analysis of all 39 studies identified T2D-associated variants in BCL2 (p = 2.1 x 10(-8)). Finally, a composite genetic score of SNPs from new and established T2D signals was significantly associated with increased risk of diabetes in African-American, Hispanic, and Asian populations. In summary, large-scale meta-analysis involving a dense gene-centric approach has uncovered additional loci and variants that contribute to T2D risk and suggests substantial overlap of T2D association signals across multiple ethnic groups.
  •  
8.
  • Ehret, Georg B., et al. (författare)
  • Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
  • 2011
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 478:7367, s. 103-109
  • Tidskriftsartikel (refereegranskat)abstract
    • Blood pressure is a heritable trait(1) influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (>= 140 mm Hg systolic blood pressure or >= 90 mm Hg diastolic blood pressure)(2). Even small increments in blood pressure are associated with an increased risk of cardiovascular events(3). This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention.
  •  
9.
  • Fuchsberger, Christian, et al. (författare)
  • The genetic architecture of type 2 diabetes
  • 2016
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
  • Tidskriftsartikel (refereegranskat)abstract
    • The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
  •  
10.
  • Stolk, Lisette, et al. (författare)
  • Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
  • 2012
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268
  • Tidskriftsartikel (refereegranskat)abstract
    • To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.
  •  
Skapa referenser, mejla, bekava och länka
Typ av publikation
tidskriftsartikel (94)
forskningsöversikt (2)
konferensbidrag (1)
Typ av innehåll
refereegranskat (97)
Författare/redaktör
van der Schouw, Yvon ... (127)
Wareham, Nicholas J (62)
Overvad, Kim (56)
Boeing, Heiner (54)
Riboli, Elio (53)
Tumino, Rosario (50)
visa fler...
Forouhi, Nita G. (47)
Tjonneland, Anne (43)
Khaw, Kay-Tee (42)
Langenberg, Claudia (41)
Sharp, Stephen J. (41)
Key, Timothy J (40)
Panico, Salvatore (40)
Spijkerman, Annemiek ... (40)
Kaaks, Rudolf (39)
Sacerdote, Carlotta (39)
Palli, Domenico (39)
Nilsson, Peter M (35)
van der A, Daphne L. (34)
Rolandsson, Olov (33)
Franks, Paul W (33)
Schulze, Matthias B (30)
Clavel-Chapelon, Fra ... (28)
Slimani, Nadia (28)
van der Schouw, YT (28)
Fagherazzi, Guy (26)
Nilsson, Peter (25)
Quirós, J Ramón (25)
Verschuren, W. M. Mo ... (25)
Trichopoulou, Antoni ... (24)
Arriola, Larraitz (24)
Sánchez, Maria-José (23)
Melander, Olle (23)
Kühn, Tilman (23)
Franks, Paul (22)
Onland-Moret, N Char ... (22)
Balkau, Beverley (22)
Danesh, John (22)
Grioni, Sara (21)
Barricarte, Aurelio (20)
Scott, Robert A (20)
Grobbee, Diederick E ... (20)
Sluijs, Ivonne (20)
Ardanaz, Eva (19)
Feskens, Edith J. M. (19)
Boer, Jolanda M. A. (19)
Huerta, José Maria (18)
Masala, Giovanna (17)
Bueno-de-Mesquita, H ... (17)
Salomaa, Veikko (17)
visa färre...
Lärosäte
Lunds universitet (72)
Umeå universitet (54)
Uppsala universitet (15)
Karolinska Institutet (13)
Göteborgs universitet (6)
Stockholms universitet (3)
visa fler...
Högskolan Dalarna (2)
Linköpings universitet (1)
visa färre...
Språk
Engelska (97)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (88)
Naturvetenskap (3)
Lantbruksvetenskap (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy