Now showing items 1263-1282 of 3226

    • Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight. 

      Tyrrell, Jessica; Richmond, R. C.; Palmer, T. M.; Feenstra, B.; Rangarajan, J.; Metrustry, S.; Cavadino, A.; Paternoster, L.; Armstrong, L. L.; De Silva, N. M. G.; Wood, A. R.; Horikoshi, M.; Geller, F.; Myhre, R.; Bradfield, J. P.; Kreiner-Møller, E.; Huikari, V.; Painter, J. N.; Hottenga, J.J.; Allard, C.; Berry, D. J.; Bouchard, L.; Das, S.; Evans, D. M.; Hakonarson, H.; Hayes, M. G.; Heikkinen, J.; Hofman, A.; Knight, B.; Lind, P. A.; McCarthy, M. I.; McMahon, G.; Medland, S. E.; Melbye, M.; Morris, A. P.; Nodzenski, M.; Reichetzeder, C.; Ring, S. M.; Sebert, S.; Sengpiel, V.; Sørensen, T. I. A.; Willemsen, G.; de Geus, E. J. C.; Martin, N. G.; Spector, T. D.; Power, C.; Järvelin, M.-R.; Bisgaard, H.; Grant, S. F. A.; Nohr, E. A.; Jaddoe, V. W.; Jacobsson, B.; Murray, J. C.; Hocher, B.; Hattersley, Andrew T.; Scholtens, D. M.; Davey Smith, G.; Hivert, M.-F.; Felix, J. F.; Hyppönen, E.; Lowe, W. L.; Frayling, T. M.; Lawlor, D. A.; Freathy, Rachel M. (JAMA, 2016-03-15)
      Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these ...
    • Genetic evidence for different adiposity phenotypes and their opposing influence on ectopic fat and risk of cardiometabolic disease. 

      Martin, Susan; Cule, Madeleine; Basty, Nicolas; Tyrrell, Jessica; Beaumont, Robin N.; Wood, Andrew R.; Frayling, Timothy M.; Sorokin, Elena; Whitcher, Brandon; Liu, Yi; Bell, Jimmy D.; Thomas, E. Louise; Yaghootkar, Hanieh (American Diabetes Association, 2021-05-12)
      To understand the causal role of adiposity and ectopic fat in type 2 diabetes and cardiometabolic diseases, we aimed to identify two clusters of adiposity genetic variants, one with 'adverse' metabolic effects (UFA) and ...
    • Genetic evidence that higher central adiposity causes gastro-oesophageal reflux disease: a Mendelian-randomization study 

      Beaumont, Robin N.; Wood, A. R.; Hamilton, Benjamin; Jones, S. E.; Yaghootkar, Hanieh; Goodhand, James R.; Kennedy, Nicholas A.; Ahmad, Tariq; Weedon, M. N.; Frayling, Timothy M.; Tyrrell, Jessica (Silverchair Information Systems, 2020-08-01)
      Background: Gastro-oesophageal reflux disease (GORD) is associated with multiple risk factors but determining causality is difficult. We used a genetic approach [Mendelian randomization (MR)] to identify potential causal ...
    • Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health. 

      Ruth, K. S.; Beaumont, Robin N.; Tyrrell, J; Jones, S. E.; Tuke, M. A.; Yaghootkar, Hanieh; Wood, A. R.; Freathy, Rachel M.; Weedon, M. N.; Frayling, Timothy M.; Murray, Anna (Oxford Journals, 2016-02)
      How does a genetic variant in the FSHB promoter, known to alter FSH levels, impact female reproductive health?
    • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci 

      Gaulton, K. J. [et al]; Frayling, Timothy M.; Hattersley, Andrew T. (Nature, 2015-12)
      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 ...
    • Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes 

      Flanagan, Sarah (Springer, 2019-03)
      Genome-wide association studies have identified 57 genetic risk loci for type 1 diabetes. Progress has been made in unravelling the mechanistic effects of some of these variants, providing key insights into the pathogenesis ...
    • Genetic mutations associated with neonatal diabetes mellitus in Omani patients. 

      Al Senani, A.; Hamza, N.; Al Azkawi, H.; Al Kharusi, M.; Al Sukaiti, N.; Al Badi, M.; Al Yahyai, M.; Johnson, M.; De Franco, E.; Flanagan, S. E.; Hattersley, Andrew T.; Ellard, Sian; Mula-Abed, W-A (De Gruyter, 2018-01-12)
      Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM.
    • Genetic predisposition to mosaic Y chromosome loss in blood 

      Murray, Anna (Nature, 2019-11)
      Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, ...
    • Genetic risk scores in adult-onset type 1 diabetes - Authors' reply. 

      Thomas, N. J.; Jones, S. E.; Weedon, M. N.; Shields, B. M.; Hattersley, Andrew T.; Oram, Richard A. (Elsevier, 2018-03)
    • Genetic risk variants for brain disorders are enriched in cortical H3K27ac domains 

      Mill, Jonathan (BioMed Central, 2019-01)
      Most variants associated with complex phenotypes in genome-wide association studies (GWAS) do not directly index coding changes affecting protein structure. Instead they are hypothesized to influence gene regulation, with ...
    • Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: A prospective study in children. 

      Bonifacio, E.; Beyerlein, A.; Hippich, M.; Winkler, C.; Vehik, K.; Weedon, M. N.; Laimighofer, M.; Hattersley, Andrew T.; Krumsiek, J.; Frohnert, B. I.; Steck, A. K.; Hagopian, W. A.; Krischer, J. P.; Lernmark, Å.; Rewers, M. J.; She, J-X; Toppari, J.; Akolkar, B.; Oram, Richard A.; Rich, S. S.; Ziegler, A-G (PLoS, 2018-04)
      Around 0.3% of newborns will develop autoimmunity to pancreatic beta cells in childhood and subsequently develop type 1 diabetes before adulthood. Primary prevention of type 1 diabetes will require early intervention in ...
    • Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. 

      Alves, M. M.; Halim, D.; Maroofian, R.; de Graaf, B. M.; Rooman, R.; van der Werf, C. S.; Van de Vijver, E.; Mehrjardi, M. Y.; Aflatoonian, M.; Chioza, Barry A.; Baple, E. L.; Dehghani, M.; Crosby, Andrew H.; Hofstra, R.M. (Nature, 2016-06-29)
      Congenital short bowel syndrome (CSBS) is an intestinal pediatric disorder, where patients are born with a dramatic shortened small intestine. Pathogenic variants in CLMP were recently identified to cause an autosomal ...
    • Genetic studies of body mass index yield new insights for obesity biology 

      Locke, A. E. [et al]; Frayling, Timothy M.; Hattersley, Andrew T. (Nature, 2015-02)
      Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure ...
    • Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity 

      Yaghootkar, Hanieh; Frayling, Timothy M. (HighWire, 2020-12)
      Leptin influences food intake by informing the brain about the status of body fat stores. Rare LEP mutations associated with congenital leptin deficiency cause severe early-onset obesity that can be mitigated by administering ...
    • Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation. 

      Cairns, Lauren M.; Rankin, Julia; Hamad, Asma; Cooper, Nicola; Merrifield, Katrina; Jain, Vani; Rosser, Elisabeth; Rogers, Megan; Buston, Sarah; Stopford, Cheryl; Jones, Gabriela; Lefroy, Henrietta; Németh, Andrea H.; Holden, Simon; Douglas, Andrew G. L. (BMJ, 2021-05-07)
      INTRODUCTION: Motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable ...
    • Genetic variants near MLST8 and DHX57 affect the epigenetic age of the cerebellum. 

      Lu, A. T.; Hannon, E.; Levine, M. E.; Hao, K.; Crimmins, E. M.; Lunnon, K.; Kozlenkov, A.; Mill, Jonathan; Dracheva, S.; Horvath, S. (Nature, 2016-02-02)
      DNA methylation (DNAm) levels lend themselves for defining an epigenetic biomarker of aging known as the 'epigenetic clock'. Our genome-wide association study (GWAS) of cerebellar epigenetic age acceleration identifies ...
    • Genetic Variation at 16q24.2 is associated with small vessel stroke. 

      Traylor, M.; Malik, R.; Nalls, M. A.; Cotlarciuc, I.; Radmanesh, F.; Thorleifsson, G.; Hanscombe, K. B.; Langefeld, C.; Saleheen, D.; Rost, N. S.; Yet, I.; Spector, T. D.; Bell, J. T.; Hannon, E.; Mill, Jonathan; Chauhan, G.; Debette, S.; Bis, J.C.; Longstreth, W. T.; Ikram, M. A.; Launer, L. J.; Seshadri, S.; Jimenez-Conde, J.; Cole, J. W.; Schmidt, R.; Słowik, A.; Lemmens, R.; Lindgren, A.; Melander, O.; Grewal, R. P.; Sacco, R. L.; Rundek, T.; Rexrode, K.; Arnett, D. K.; Johnson, J. A.; Benavente, O. R.; Wasssertheil-Smoller, S.; Lee, J-M; Pulit, S. L.; Wong, Q.; Rich, S. S.; de Bakker, P. I. W.; McArdle, P. F.; Woo, D.; Anderson, C. D.; Xu, H.; Heitsch, L.; Fornage, M.; Jern, C.; Stefansson, K.; Thorsteinsdottir, U.; Gretarsdottir, S.; Lewis, C. M.; Sharma, P.; Sudlow, C. L. M.; Rothwell, P. M.; Boncoraglio, G. B.; Thijs, V.; Levi, C.; Meschia, J. F.; Rosand, J.; Kittner, S. J.; Mitchell, B. D.; Dichgans, M.; Worrall, B. B.; Markus, H. S. (Wiley, 2016-12-20)
      Genome-wide association studies (GWAS) have been successful at identifying associations with stroke and stroke subtypes, but have not yet identified any associations solely with small vessel stroke (SVS). SVS comprises a ...
    • Genetically defined favourable adiposity is not associated with a clinically meaningful difference in clinical course in people with type 2 diabetes but does associate with a favourable metabolic profile 

      Heald, Adrian H.; Martin, Susan; Fachim, Helene; Green, Harry D.; Young, Katherine G.; Malipatil, Nagaraj; Siddals, Kirk; Cortes, Gabriela; Tyrrell, Jessica; Wood, Andrew R.; Beaumont, Robin N.; Frayling, Timothy M.; Donn, Rachelle; Narayanan, Ram Prakash; Ollier, William; Gibson, Martin; Yaghootkar, Hanieh (Wiley, 2021-01-27)
      AIMS: Change in weight, HbA(1c) , lipids, blood pressure and cardiometabolic events over time is variable in individuals with type 2 diabetes. We hypothesised that people with a genetic predisposition to a more favourable ...
    • Genetics and the geography of health, behaviour and attainment 

      Mill, Jonathan (Nature, 2019-06)
      Young people's life chances can be predicted by characteristics of their neighbourhood1. Children growing up in disadvantaged neighbourhoods exhibit worse physical and mental health and suffer poorer educational and economic ...
    • Genetics of early growth traits 

      Freathy, Rachel M. (Oxford University Press, 2020-09-30)
      In recent years, genome-wide association studies have shed light on the genetics of early growth and its links with later-life health outcomes. Large-scale datasets and meta-analyses, combined with recently developed ...