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Search: WFRF:(Edwards Scott Professor)

  • Result 1-4 of 4
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1.
  • Evangelou, Evangelos, et al. (author)
  • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
  • 2018
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 50:10, s. 1412-1425
  • Journal article (peer-reviewed)abstract
    • High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.
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2.
  • Gaziano, Liam, et al. (author)
  • Mild-to-moderate kidney dysfunction and cardiovascular disease : Observational and mendelian randomization analyses
  • 2022
  • In: Circulation. - : Wolters Kluwer. - 0009-7322 .- 1524-4539. ; 146:20, s. 1507-1517
  • Journal article (peer-reviewed)abstract
    • BACKGROUND: End-stage renal disease is associated with a high risk of cardiovascular events. It is unknown, however, whether mild-to-moderate kidney dysfunction is causally related to coronary heart disease (CHD) and stroke.METHODS: Observational analyses were conducted using individual-level data from 4 population data sources (Emerging Risk Factors Collaboration, EPIC-CVD [European Prospective Investigation into Cancer and Nutrition-Cardiovascular Disease Study], Million Veteran Program, and UK Biobank), comprising 648 135 participants with no history of cardiovascular disease or diabetes at baseline, yielding 42 858 and 15 693 incident CHD and stroke events, respectively, during 6.8 million person-years of follow-up. Using a genetic risk score of 218 variants for estimated glomerular filtration rate (eGFR), we conducted Mendelian randomization analyses involving 413 718 participants (25 917 CHD and 8622 strokes) in EPIC-CVD, Million Veteran Program, and UK Biobank.RESULTS: There were U-shaped observational associations of creatinine-based eGFR with CHD and stroke, with higher risk in participants with eGFR values <60 or >105 mL·min-1·1.73 m-2, compared with those with eGFR between 60 and 105 mL·min-1·1.73 m-2. Mendelian randomization analyses for CHD showed an association among participants with eGFR <60 mL·min-1·1.73 m-2, with a 14% (95% CI, 3%-27%) higher CHD risk per 5 mL·min-1·1.73 m-2 lower genetically predicted eGFR, but not for those with eGFR >105 mL·min-1·1.73 m-2. Results were not materially different after adjustment for factors associated with the eGFR genetic risk score, such as lipoprotein(a), triglycerides, hemoglobin A1c, and blood pressure. Mendelian randomization results for stroke were nonsignificant but broadly similar to those for CHD.CONCLUSIONS: In people without manifest cardiovascular disease or diabetes, mild-to-moderate kidney dysfunction is causally related to risk of CHD, highlighting the potential value of preventive approaches that preserve and modulate kidney function.
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3.
  • Segami, Carolina (author)
  • Hybrid sterility and genetic incompatibilities in Ficedula flycatchers
  • 2022
  • Doctoral thesis (other academic/artistic)abstract
    • Although the theory behind the mechanisms generating intrinsic post-zygotic isolation is well established, very few concrete examples of genetic incompatibilities have been described, especially in vertebrates. Consequently, our understanding of the evolutionary forces shaping the appearance of genetic incompatibilities between natural populations and the overall role of genetic incompatibilities in the speciation process is limited. In this doctoral thesis I will contribute to filling this gap in knowledge by using different approaches to investigate the causes and genetic basis of male hybrid sterility in a natural Ficedula flycatcher hybrid zone. I started by analyzing hybrid inviability patterns using 17 years of long-term monitoring data and found evidence for hybrid inviability at different life stages (Paper I). Early developmental failure of hybrids as revealed by the lower hatching success of mixed-species pairs suggesting emerging severe but non-fixed incompatibilities between the two species. Subtler differences in terms of lower growth potential and shorter lifespan indicate mito-nuclear incompatibilities as elevated metabolic rate can cause accumulation of toxic by-products in the form of Reactive Oxygen Species (ROS). Because previous evidence indicated problems during spermatogenesis in male hybrids, I characterized collared and pied flycatcher spermatogenesis at a single-cell level (Paper II). Since this was the first single-cell study investigating avian spermatogenesis, I identified the three main stages of spermatogenesis and described expression patterns of autosomes and Z-linked genes. By analyzing differential gene expression and estimates of protein evolution, I found that meiosis appears to be less evolutionary constraint in birds than in mammals. I propose that this fundamental difference is caused by the lack of MSCI in the spermatogenesis of ZW systems. Using the spermatogenesis characterization as a baseline, I then explored hybrid spermatogenesis to detect the stage of failure and associated genes (Paper III). By using a combination of histology sections, single-cell RNA sequencing and whole genome re-sequencing data, I found strong evidence of meiosis failure in hybrid spermatogenesis. I identified genes with non-synonymous fixed differences between the two species that were also DE during spermatogenesis. This enabled me to identify candidate genes causing genetic incompatibilities leading to meiosis failure in hybrid flycatchers. Finally, I explored the role of the enigmatic Germline restricted chromosome (GRC) in flycatcher spermatogenesis (Paper IV). I sequenced the GRC and revealed the gene contents for both species of flycatchers. Then we verified the transcription of the contents of the GRC and identified testis cell clusters containing GRC transcripts to reveal at what developmental stages of spermatogenesis the GRC linked genes are transcribed. I found big differences in the patterns of expression of GRC-linked genes between the two species, adding support for the notion that GRC evolution is very fast. Among the transcribed GRC genes, I found three relevant genes for spermatogenesis, sex-determination and germline maintenance shared by both species, suggesting a possible role of the GRC in those processes. The main conclusion from my work is that, in contrast to expectations, incompatibilities causing hybrid sterility can be found in genes with conserved functions. This is because a few changes in these genes may disrupt important networks of genes and quickly cause post-zygotic isolation at secondary contact. 
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4.
  • Jiang, Zhiyong, et al. (author)
  • Gene flow and an anomaly zone complicate phylogenomic inference in a rapidly radiated avian family (Prunellidae)
  • 2024
  • In: BMC Biology. - : BioMed Central (BMC). - 1741-7007. ; 22:1
  • Journal article (peer-reviewed)abstract
    • BackgroundResolving the phylogeny of rapidly radiating lineages presents a challenge when building the Tree of Life. An Old World avian family Prunellidae (Accentors) comprises twelve species that rapidly diversified at the Pliocene-Pleistocene boundary.ResultsHere we investigate the phylogenetic relationships of all species of Prunellidae using a chromosome-level de novo assembly of Prunella strophiata and 36 high-coverage resequenced genomes. We use homologous alignments of thousands of exonic and intronic loci to build the coalescent and concatenated phylogenies and recover four different species trees. Topology tests show a large degree of gene tree-species tree discordance but only 40-54% of intronic gene trees and 36-75% of exonic genic trees can be explained by incomplete lineage sorting and gene tree estimation errors. Estimated branch lengths for three successive internal branches in the inferred species trees suggest the existence of an empirical anomaly zone. The most common topology recovered for species in this anomaly zone was not similar to any coalescent or concatenated inference phylogenies, suggesting presence of anomalous gene trees. However, this interpretation is complicated by the presence of gene flow because extensive introgression was detected among these species. When exploring tree topology distributions, introgression, and regional variation in recombination rate, we find that many autosomal regions contain signatures of introgression and thus may mislead phylogenetic inference. Conversely, the phylogenetic signal is concentrated to regions with low-recombination rate, such as the Z chromosome, which are also more resistant to interspecific introgression.ConclusionsCollectively, our results suggest that phylogenomic inference should consider the underlying genomic architecture to maximize the consistency of phylogenomic signal.
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  • Result 1-4 of 4
Type of publication
journal article (3)
doctoral thesis (1)
Type of content
peer-reviewed (3)
other academic/artistic (1)
Author/Editor
Sundström, Johan, Pr ... (2)
Langenberg, Claudia (2)
Gyllensten, Ulf B. (1)
Ärnlöv, Johan, 1970- (1)
Tjønneland, Anne (1)
Kaaks, Rudolf (1)
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Masala, Giovanna (1)
Tumino, Rosario (1)
Sacerdote, Carlotta (1)
Amiano, Pilar (1)
Khaw, Kay-Tee (1)
Wareham, Nick (1)
Riboli, Elio (1)
Hankey, Graeme J. (1)
Lei, Fumin (1)
Salomaa, Veikko (1)
Jula, Antti (1)
Perola, Markus (1)
Gaziano, Thomas A. (1)
Lind, Lars (1)
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Raitakari, Olli T (1)
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Campbell, Harry (1)
Rudan, Igor (1)
Schubert, Petra (1)
Strachan, David P (1)
Evangelou, Marina (1)
Arndt, Volker (1)
Dimou, Niki (1)
Katzke, Verena (1)
Freisling, Heinz (1)
Schulze, Matthias B. (1)
Sieri, Sabina (1)
Heath, Alicia K. (1)
Kyrø, Cecilie (1)
Wareham, Nicholas J. (1)
Johansson, Åsa (1)
Almgren, Peter (1)
Laakso, Markku (1)
Melander, O. (1)
Ridker, Paul M. (1)
Chasman, Daniel I. (1)
Amin, Najaf (1)
van Duijn, Cornelia ... (1)
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University
Uppsala University (4)
Lund University (2)
Karolinska Institutet (2)
University of Gothenburg (1)
Umeå University (1)
Stockholm University (1)
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Högskolan Dalarna (1)
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Language
English (4)
Research subject (UKÄ/SCB)
Natural sciences (3)
Medical and Health Sciences (2)

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