SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Ingelsson Erik) "

Sökning: WFRF:(Ingelsson Erik)

Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Castillejo-Lopez, Casimiro, et al. (författare)
  • Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation
  • 2019
  • Ingår i: iScience. - 2589-0042. ; 20, s. 42-59
  • Tidskriftsartikel (refereegranskat)abstract
    • We combined CAGE sequencing in human adipocytes during differentiation with data from genome-wide association studies to identify an enhancer in the SNX10 locus on chromosome 7, presumably involved in body fat distribution. Using reporter assays and CRISPR-Cas9 gene editing in human cell lines, we characterized the role of the enhancer in adipogenesis. The enhancer was active during adipogenesis and responded strongly to insulin and isoprenaline. The allele associated with increased waist-hip ratio in human genetic studies was associated with higher enhancer activity. Mutations of the enhancer resulted in less adipocyte differentiation. RNA sequencing of cells with disrupted enhancer showed reduced expression of established adipocyte markers, such as ADIPOQ and LPL, and identified CHI3L1 on chromosome 1 as a potential gene involved in adipocyte differentiation. In conclusion, we identified and characterized an enhancer in the SNX10 locus and outlined its plausible mechanisms of action and downstream targets.
  •  
2.
  • Chen, Ji, et al. (författare)
  • The trans-ancestral genomic architecture of glycemic traits
  • 2021
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 53:6, s. 840-860
  • Tidskriftsartikel (refereegranskat)abstract
    • Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P < 5 × 10-8), 80% of which had no significant evidence of between-ancestry heterogeneity. Analyses restricted to individuals of European ancestry with equivalent sample size would have led to 24 fewer new loci. Compared with single-ancestry analyses, equivalent-sized trans-ancestry fine-mapping reduced the number of estimated variants in 99% credible sets by a median of 37.5%. Genomic-feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase our understanding of diabetes pathophysiology by using trans-ancestry studies for improved power and resolution.
  •  
3.
  •  
4.
  • Dumanski, Jan P., et al. (författare)
  • Mutagenesis : smoking is associated with mosaic loss of chromosome Y
  • 2015
  • Ingår i: Science. - 0036-8075 .- 1095-9203. ; 347:6217, s. 81-83
  • Tidskriftsartikel (refereegranskat)abstract
    • Tobacco smoking is a risk factor for numerous disorders, including cancers affecting organs outside the respiratory tract. Epidemiological data suggest that smoking is a greater risk factor for these cancers in males compared to females. This observation, together with the fact that males have a higher incidence of and mortality from most non-sex-specific cancers, remains unexplained. Loss of chromosome Y (LOY) in blood cells is associated with increased risk of nonhematological tumors. We demonstrate here that smoking is associated with LOY in blood cells in three independent cohorts [TwinGene: odds ratio (OR) = 4.3, 95% CI = 2.8-6.7; ULSAM: OR = 2.4, 95% CI = 1.6-3.6; and PIVUS: OR = 3.5, 95% CI = 1.4-8.4] encompassing a total of 6014 men. The data also suggest that smoking has a transient and dose-dependent mutagenic effect on LOY status. The finding that smoking induces LOY thus links a preventable risk factor with the most common acquired human mutation.
  •  
5.
  •  
6.
  • Ehret, Georg B., et al. (författare)
  • The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
  • 2016
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 48:10, s. 1171-1184
  • Tidskriftsartikel (refereegranskat)abstract
    • To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target organ damage in multiple tissues but with minor effects in the kidney. Our findings expand current knowledge of blood pressure-related pathways and highlight tissues beyond the classical renal system in blood pressure regulation.
  •  
7.
  • Ehrlund, Anna, et al. (författare)
  • Transcriptional Dynamics During Human Adipogenesis and Its Link to Adipose Morphology and Distribution
  • 2017
  • Ingår i: Diabetes. - 0012-1797 .- 1939-327X. ; 66:1, s. 218-230
  • Tidskriftsartikel (refereegranskat)abstract
    • White adipose tissue (WAT) can develop into several phenotypes with different pathophysiological impact on type 2 diabetes. To better understand the adipogenic process, the transcriptional events that occur during in vitro differentiation of human adipocytes were investigated and the findings linked to WAT phenotypes. Single molecule transcriptional profiling provided a detailed map of the expressional changes of genes, enhancers, and long noncoding RNAs, where different types of transcripts share common dynamics during differentiation. Common signatures include early downregulated, transient, and late induced transcripts, all of which are linked to distinct developmental processes during adipogenesis. Enhancers expressed during adipogenesis overlap significantly with genetic variants associated with WAT distribution. Transiently expressed and late induced genes are associated with hypertrophic WAT (few but large fat cells), a phenotype closely linked to insulin resistance and type 2 diabetes. Transcription factors that are expressed early or transiently affect differentiation and adipocyte function and are controlled by several well-known upstream regulators such as glucocorticosteroids, insulin, cAMP, and thyroid hormones. Taken together, our results suggest a complex but highly coordinated regulation of adipogenesis.
  •  
8.
  • Ek, Weronica E., et al. (författare)
  • Tea and coffee consumption in relation to DNA methylation in four European cohorts
  • 2017
  • Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 26:16, s. 3221-3231
  • Tidskriftsartikel (refereegranskat)abstract
    • Lifestyle factors, such as food choices and exposure to chemicals, can alter DNA methylation and lead to changes in gene activity. Two such exposures with pharmacologically active components are coffee and tea consumption. Both coffee and tea has been suggested to play an important role in modulating disease-risk in humans by suppressing tumour progression, decreasing inflammation and influencing estrogen metabolism. These mechanisms may be mediated by changes in DNA methylation.To investigate if DNA methylation in blood is associated with coffee and tea consumption we performed a genome-wide DNA methylation study for coffee and tea consumption in four European cohorts (N = 3,096). DNA methylation was measured from whole blood at 421,695 CpG sites distributed throughout the genome and analysed in men and women both separately and together in each cohort. Meta-analyses of the results and additional regional-level analyses were performed.After adjusting for multiple testing, the meta-analysis revealed that two individual CpG-sites, mapping to DNAJC16 and TTC17, were differentially methylated in relation to tea consumption in women. No individual sites were associated in men or in the sex-combined analysis for tea or coffee. The regional analysis revealed that 28 regions were differentially methylated in relation to tea consumption in women. These regions contained genes known to interact with estradiol metabolism and cancer. No significant regions were found in the sex-combined and male-only analysis for either tea or coffee consumption.
  •  
9.
  • Engelborghs, Sebastiaan, et al. (författare)
  • Consensus guidelines for lumbar puncture in patients with neurological diseases
  • 2017
  • Ingår i: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. - : Elsevier. - 2352-8729. ; 8, s. 111-126
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction Cerebrospinal fluid collection by lumbar puncture (LP) is performed in the diagnostic workup of several neurological brain diseases. Reluctance to perform the procedure is among others due to a lack of standards and guidelines to minimize the risk of complications, such as post-LP headache or back pain. Methods We provide consensus guidelines for the LP procedure to minimize the risk of complications. The recommendations are based on (1) data from a large multicenter LP feasibility study (evidence level II-2), (2) systematic literature review on LP needle characteristics and post-LP complications (evidence level II-2), (3) discussion of best practice within the Joint Programme Neurodegenerative Disease Research Biomarkers for Alzheimer's disease and Parkinson's Disease and Biomarkers for Multiple Sclerosis consortia (evidence level III). Results Our consensus guidelines address contraindications, as well as patient-related and procedure-related risk factors that can influence the development of post-LP complications. Discussion When an LP is performed correctly, the procedure is well tolerated and accepted with a low complication rate.
  •  
10.
  • Folkersen, Lasse, et al. (författare)
  • Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.
  • 2020
  • Ingår i: Nature metabolism. - : Springer Nature. - 2522-5812. ; 2:10, s. 1135-1148
  • Tidskriftsartikel (refereegranskat)abstract
    • Circulating proteins are vital in human health and disease and are frequently used as biomarkers for clinical decision-making or as targets for pharmacological intervention. Here, we map and replicate protein quantitative trait loci (pQTL) for 90 cardiovascular proteins in over 30,000 individuals, resulting in 451 pQTLs for 85 proteins. For each protein, we further perform pathway mapping to obtain trans-pQTL gene and regulatory designations. We substantiate these regulatory findings with orthogonal evidence for trans-pQTLs using mouse knockdown experiments (ABCA1 and TRIB1) and clinical trial results (chemokine receptors CCR2 and CCR5), with consistent regulation. Finally, we evaluate known drug targets, and suggest new target candidates or repositioning opportunities using Mendelian randomization. This identifies 11 proteins with causal evidence of involvement in human disease that have not previously been targeted, including EGF, IL-16, PAPPA, SPON1, F3, ADM, CASP-8, CHI3L1, CXCL16, GDF15 and MMP-12. Taken together, these findings demonstrate the utility of large-scale mapping of the genetics of the proteome and provide a resource for future precision studies of circulating proteins in human health.
  •  
Skapa referenser, mejla, bekava och länka
Typ av publikation
tidskriftsartikel (362)
konferensbidrag (43)
doktorsavhandling (8)
annan publikation (6)
bokkapitel (3)
forskningsöversikt (2)
visa fler...
visa färre...
Typ av innehåll
refereegranskat (376)
övrigt vetenskapligt (47)
populärvet., debatt m.m. (1)
Författare/redaktör
Ingelsson, Erik (281)
Lind, Lars (212)
Sundström, Johan (84)
Ärnlöv, Johan (79)
Ingelsson, Erik, 197 ... (79)
Morris, Andrew P. (76)
visa fler...
Gustafsson, Stefan (74)
Wareham, Nicholas J. (69)
Loos, Ruth J F (68)
McCarthy, Mark I (67)
Salomaa, Veikko (66)
Langenberg, Claudia (64)
Lindgren, Cecilia M. (63)
Boehnke, Michael (62)
Laakso, Markku (59)
Mahajan, Anubha (59)
Uitterlinden, Andre ... (58)
Pedersen, Nancy L (58)
Mohlke, Karen L (54)
Esko, Tonu (54)
Hofman, Albert (53)
Metspalu, Andres (53)
Gieger, Christian (51)
Hayward, Caroline (51)
Luan, Jian'an (51)
Stefansson, Kari (50)
Van Duijn, Cornelia ... (49)
Kuusisto, Johanna (49)
Gudnason, Vilmundur (48)
Rotter, Jerome I. (48)
Deloukas, Panos (48)
Tuomilehto, Jaakko (48)
Harris, Tamara B (48)
Chasman, Daniel I. (47)
Hamsten, Anders (47)
Thorsteinsdottir, Un ... (47)
Boerwinkle, Eric (47)
Perola, Markus (46)
Rudan, Igor (46)
Ridker, Paul M. (46)
Giedraitis, Vilmanta ... (46)
Thorleifsson, Gudmar (45)
Jackson, Anne U. (45)
Fall, Tove (44)
Peters, Annette (44)
Barroso, Ines (44)
Prokopenko, Inga (44)
Frayling, Timothy M (44)
Wilson, James F. (43)
Collins, Francis S. (43)
visa färre...
Lärosäte
Uppsala universitet (318)
Karolinska Institutet (104)
Lunds universitet (85)
Umeå universitet (51)
Högskolan Dalarna (51)
Linköpings universitet (33)
visa fler...
Göteborgs universitet (26)
Örebro universitet (18)
Stockholms universitet (8)
Södertörns högskola (2)
Kungliga Tekniska Högskolan (1)
Luleå tekniska universitet (1)
Mittuniversitetet (1)
Gymnastik- och idrottshögskolan (1)
Linnéuniversitetet (1)
Högskolan i Gävle (1)
RISE (1)
visa färre...
Språk
Engelska (418)
Svenska (3)
Odefinierat språk (3)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (290)
Naturvetenskap (38)
Teknik (9)
Samhällsvetenskap (4)

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