Now showing items 42-59 of 59

    • Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma 

      Farahi, Neda; Paige, E; Balla, J; Prudence, E; Ferreira, RC; Southwood, M; Appleby, SL et al. (Oxford University Press, 2017-02-17)
      The Asp358Ala variant in the interleukin-6 receptor (IL-6R) gene has been implicated in asthma, autoimmune and cardiovascular disorders, but its role in other respiratory conditions such as chronic obstructive pulmonary ...
    • New blood pressure associated loci identified in meta-analyses of 475,000 individuals 

      Howson, Joanna McCammond; Danesh, John; Surendran, Praveen; Butterworth, Adam Stuart (American Heart Association, 2017-10-13)
      Background: Genome-wide association studies have recently identified over 400 loci that harbor DNA sequence variants that influence blood pressure (BP). Our earlier work identified and validated 56 single nucleotide variants ...
    • NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease. 

      Schwerd, T; Bryant, RV; Pandey, S; Capitani, M; Meran, L; Cazier, J-B; Jung, J et al. (2017-11)
    • Parity, breastfeeding and risk of coronary heart disease: A pan-European case-cohort study 

      Peters, SA; van der Schouw, YT; Wood, Angela Mary; Sweeting, Michael John; Moons, KG; Weiderpass, E; Arriola, L et al. (SAGE Publications Ltd, 2016-11)
      OBJECTIVE: There is uncertainty about the direction and magnitude of the associations between parity, breastfeeding and the risk of coronary heart disease (CHD). We examined the separate and combined associations of parity ...
    • PhenoScanner: a database of human genotype-phenotype associations 

      Staley, James; Blackshaw, James; Kamat, Mihir Anant; Ellis, Steve; Surendran, Praveen; Sun, Benjamin; Paul, Dirk Stefan et al. (Oxford University Press, 2016)
      PhenoScanner is a curated database of publicly available results from large-scale genetic association studies. This tool aims to facilitate “phenome scans”, the cross-referencing of genetic variants with many phenotypes, ...
    • Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 

      Emdin, Connor A; Khera, Amit V; Natarajan, Pradeep; Klarin, Derek; Won, Hong-Hee; Peloso, Gina M; Stitziel, Nathan O et al. (Elsevier, 2016-12-27)
      Background Genomic analyses have suggested that the LPA gene and its associated plasma biomarker, lipoprotein(a) (Lp[a]), represent a causal risk factor for coronary heart disease (CHD). As such, lowering Lp(a) levels has ...
    • Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling. 

      Emdin, Connor A; Khera, Amit V; Klarin, Derek; Natarajan, Pradeep; Zekavat, Seyedeh M; Nomura, Akihiro; Haas, Mary et al. (2018-01)
    • Platelet function is modified by common sequence variation in megakaryocyte super enhancers 

      Petersen, R; Lambourne, John Joseph; Javierre, BM; Grassi, Luigi; Kreuzhuber, R; Ruklisa, Dace; Rosa, IM et al. (Springer Nature, 2017-07-13)
      Linking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to ...
    • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 

      Turcot, Valérie; Lu, Yingchang; Highland, Heather M; Schurmann, Claudia; Justice, Anne E; Fine, Rebecca S; Bradfield, Jonathan P et al. (Springer Nature, 2018-01)
      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, non-coding variants from which ...
    • Rare and low-frequency coding variants alter human adult height 

      Stirrups, Kathleen Elizabeth; Butterworth, Adam Stuart; Chowdhury, Rajiv; Danesh, John; Di Angelantonio, Emanuele; Howson, Joanna McCammond; Surendran, Praveen et al. (Nature Publishing Group, 2017-02-09)
      Height is a highly heritable, classic polygenic trait with ~700 common associated variants identified so far through genome-wide association studies. Here, we report 83 new height-associated coding variants with lower minor ...
    • Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. 

      Hendricks, Audrey E; Bochukova, Elena G; Marenne, Gaëlle; Keogh, Julia Mary; Atanassova, Neli; Bounds, Rebecca; Wheeler, Eleanor et al. (Nature Publishing Group, 2017-06-29)
      Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obesity genes in 2,548 severely obese children and 1,117 controls. We identified 52 variants ...
    • Recruitment and representativeness of blood donors in the INTERVAL randomised trial assessing varying inter-donation intervals 

      Moore, Carmel; Bolton, Thomas; Walker, Matthew; Kaptoge, Stephen Kipkemoi; Allen, David; Daynes, Michael; Mehenny, Susan et al. (BioMed Central, 2016-09-20)
      Background The interpretation of trial results can be helped by understanding how generalisable they are to the target population for which inferences are intended. INTERVAL, a large pragmatic randomised trial of blood ...
    • Risk thresholds for alcohol consumption: combined analysis of individual-participant data for 599 912 current drinkers in 83 prospective studies 

      Wood, Angela Mary; Kaptoge, Stephen Kipkemoi; Butterworth, Adam Stuart; Paul, Dirk Stefan; Burgess, Stephen; Sweeting, micheal; Bell, Steven et al. (Elsevier, 2018-04-14)
      Background Low-risk limits recommended for alcohol consumption vary substantially across different national guidelines. To define thresholds associated with lowest risk for all-cause mortality and cardiovascular disease ...
    • Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. 

      Flannick, Jason; Fuchsberger, Christian; Mahajan, Anubha; Teslovich, Tanya M; Agarwala, Vineeta; Gaulton, Kyle J; Caulkins, Lizz et al. (Springer Nature, 2017-12-19)
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    • Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease 

      Webb, TR; Erdmann, J; Stirrups, Kathleen Elizabeth; Stitziel, NO; Masca, NGD; Jansen, H; Kanoni, S et al. (Elsevier, 2017-02-21)
      BACKGROUND: Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or ...
    • Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension 

      Surendran, Praveen; Drenos, Fotios; Young, Robin; Warren, Helen; Cook, James P; Manning, Alisa K; Grarup, Niels et al. (Nature Publishing Group, 2016-09-12)
      High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we ...
    • Use of Repeated Blood Pressure and Cholesterol Measurements to Improve Cardiovascular Disease Risk Prediction: An Individual-Participant-Data Meta-Analysis 

      Paige, E; Barrett, Jessica Kate; Pennells, Lisa Anne; Sweeting, Michael John; Willeit, P; Di Angelantonio, Emanuele; Gudnason, V et al. (Oxford University Press, 2017-08-04)
      The added value of incorporating information from repeated measurements of blood pressure and cholesterol for cardiovascular disease (CVD) risk prediction has not been rigorously assessed. We used data from the Emerging ...
    • Validation of self-administered nasal swabs and postage for the isolation of $\textit{Staphylococcus aureus}$ 

      Harrison, Ewan Michael; Gleadall, Nicholas; Ba, Xiaoliang; Danesh, John; Peacock, Sharon Jayne; Holmes, Mark Adrian (Microbiology Society, 2016-12-01)
      $\textit{Staphylococcus aureus}$ carriers are at higher risk of $\textit{S. aureus}$ infection and are a reservoir for transmission to others. Detection of nasal $\textit{S. aureus}$ carriage is important for both targeted ...