Full Text Journal Articles by
Author Andrew T Hattersley

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Estimating disease prevalence in large datasets using genetic risk scores.

Benjamin D Evans, Piotr Słowiński, Andrew T Hattersley, Samuel E Jones, Seth Sharp, Robert A Kimmitt, Michael N Weedon, Richard A Oram, Krasimira Tsaneva-Atanasova, Nicholas J Thomas,

Clinical classification is essential for estimating disease prevalence but is difficult, often requiring complex investigations. The widespread availability of population level genetic data makes novel genetic stratification techniques a highly attractive alternative. We propose a generalizable mathematical framework for determining disease prevalence within a cohort using genetic risk scores. We ... Read more >>

Nat Commun (Nature communications)
[2021, 12(1):6441]

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Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Kashyap A Patel, Mehmet N Ozbek, Melek Yildiz, Tulay Guran, Cemil Kocyigit, Sezer Acar, Zeynep Siklar, Muge Atar, Kevin Colclough, Jayne Houghton, Matthew B Johnson, Sian Ellard, Sarah E Flanagan, Filiz Cizmecioglu, Merih Berberoglu, Korcan Demir, Gonul Catli, Serpil Bas, Teoman Akcay, Huseyin Demirbilek, Michael N Weedon, Andrew T Hattersley,

<h4>Aims/hypothesis</h4>Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We ... Read more >>

Diabetologia (Diabetologia)
[2021, :]

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Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.

Jonathan M Locke, Petra Dusatkova, Kevin Colclough, Alice E Hughes, John M Dennis, Beverley Shields, Sarah E Flanagan, Maggie H Shepherd, Emma L Dempster, Andrew T Hattersley, Michael N Weedon, Stepanka Pruhova, Kashyap A Patel,

Diabetologia (Diabetologia)
[2021, :]

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Higher maternal adiposity reduces offspring birthweight if associated with a metabolically favourable profile.

William D Thompson, Robin N Beaumont, Alan Kuang, Nicole M Warrington, Yingjie Ji, Jessica Tyrrell, Andrew R Wood, Denise M Scholtens, Bridget A Knight, David M Evans, William L Lowe, Gillian Santorelli, Rafaq Azad, Dan Mason, Andrew T Hattersley, Timothy M Frayling, Hanieh Yaghootkar, Maria Carolina Borges, Deborah A Lawlor, Rachel M Freathy,

<h4>Aims/hypothesis</h4>Higher maternal BMI during pregnancy is associated with higher offspring birthweight, but it is not known whether this is solely the result of adverse metabolic consequences of higher maternal adiposity, such as maternal insulin resistance and fetal exposure to higher glucose levels, or whether there is any effect of raised ... Read more >>

Diabetologia (Diabetologia)
[2021, 64(12):2790-2802]

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HbA1c performs well in monitoring glucose control even in populations with high prevalence of medical conditions that may alter its reliability: the OPTIMAL observational multicenter study.

Anxious J Niwaha, Lauren R Rodgers, Rosamund Greiner, Priscilla A Balungi, Raymond Mwebaze, Timothy J McDonald, Andrew T Hattersley, Beverley M Shields, Moffat J Nyirenda, Angus G Jones,

<h4>Introduction</h4>The utility of HbA1c (glycosylated hemoglobin) to estimate glycemic control in populations of African and other low-resource countries has been questioned because of high prevalence of other medical conditions that may affect its reliability. Using continuous glucose monitoring (CGM), we aimed to determine the comparative performance of HbA1c, fasting plasma ... Read more >>

BMJ Open Diabetes Res Care (BMJ open diabetes research & care)
[2021, 9(1):]

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Choice of HbA1c threshold for identifying individuals at high risk of type 2 diabetes and implications for diabetes prevention programmes: a cohort study.

Lauren R Rodgers, Anita V Hill, John M Dennis, Zoe Craig, Benedict May, Andrew T Hattersley, Timothy J McDonald, Rob C Andrews, Angus Jones, Beverley M Shields,

<h4>Background</h4>Type 2 diabetes (T2D) is common and increasing in prevalence. It is possible to prevent or delay T2D using lifestyle intervention programmes. Entry to these programmes is usually determined by a measure of glycaemia in the 'intermediate' range. This paper investigated the relationship between HbA1c and future diabetes risk and ... Read more >>

BMC Med (BMC medicine)
[2021, 19(1):184]

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Profiles of Glucose Metabolism in Different Prediabetes Phenotypes, Classified by Fasting Glycemia, 2-Hour OGTT, Glycated Hemoglobin, and 1-Hour OGTT: An IMI DIRECT Study.

Andrea Tura, Eleonora Grespan, Christian S Göbl, Robert W Koivula, Paul W Franks, Ewan R Pearson, Mark Walker, Ian M Forgie, Giuseppe N Giordano, Imre Pavo, Hartmut Ruetten, Emmanouil T Dermitzakis, Mark I McCarthy, Oluf Pedersen, Jochen M Schwenk, Jerzy Adamski, Federico De Masi, Konstantinos D Tsirigos, Søren Brunak, Ana Viñuela, Anubha Mahajan, Timothy J McDonald, Tarja Kokkola, Jagadish Vangipurapu, Henna Cederberg, Markku Laakso, Femke Rutters, Petra J M Elders, Anitra D M Koopman, Joline W Beulens, Martin Ridderstråle, Tue H Hansen, Kristine H Allin, Torben Hansen, Henrik Vestergaard, Andrea Mari, ,

Differences in glucose metabolism among categories of prediabetes have not been systematically investigated. In this longitudinal study, participants (<i>N</i> = 2,111) underwent a 2-h 75-g oral glucose tolerance test (OGTT) at baseline and 48 months. HbA<sub>1c</sub> was also measured. We classified participants as having isolated prediabetes defect (impaired fasting glucose ... Read more >>

Diabetes (Diabetes)
[2021, 70(9):2092-2106]

Cited: 1 time

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Reappearance of C-Peptide During the Third Trimester of Pregnancy in Type 1 Diabetes: Pancreatic Regeneration or Fetal Hyperinsulinism?

Claire L Meek, Richard A Oram, Timothy J McDonald, Denice S Feig, Andrew T Hattersley, Helen R Murphy, ,

<h4>Objective</h4>We assessed longitudinal patterns of maternal C-peptide concentration to examine the hypothesis of β-cell regeneration in pregnancy with type 1 diabetes.<h4>Research design and methods</h4>C-peptide was measured on maternal serum samples from 127 participants (12, 24, and 34 weeks) and cord blood during the Continuous Glucose Monitoring in Women With Type ... Read more >>

Diabetes Care (Diabetes care)
[2021, 44(8):1826-1834]

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Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features.

Alice E Hughes, Elisa De Franco, Evgenia Globa, Nataliya Zelinska, Dörte Hilgard, Popi Sifianou, Andrew T Hattersley, Sarah E Flanagan,

Heterozygous mutations in GCK result in a persistent, mildly raised glucose from birth, but it is usually diagnosed in adulthood as maturity-onset diabetes of the young (MODY), where hyperglycemia is often an incidental finding. The hyperglycemia of GCK-MODY is benign and does not require treatment, but is important to be ... Read more >>

Pediatr Diabetes (Pediatric diabetes)
[2021, 22(6):876-881]

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Monogenic Diabetes and Integrated Stress Response Genes Display Altered Gene Expression in Type 1 Diabetes.

Helmut Hiller, Dawn E Beachy, Joseph J Lebowitz, Stefanie Engler, Justin R Mason, Douglas R Miller, Irina Kusmarteva, Laura M Jacobsen, Amanda L Posgai, Habibeh Khoshbouei, Richard A Oram, Desmond A Schatz, Andrew T Hattersley, Bernd Bodenmiller, Mark A Atkinson, Harry S Nick, Clive H Wasserfall,

Type 1 diabetes (T1D) has a multifactorial autoimmune etiology, involving environmental prompts and polygenic predisposition. We hypothesized that pancreata from individuals with and at risk for T1D would exhibit dysregulated expression of genes associated with monogenic forms of diabetes caused by nonredundant single-gene mutations. Using a "monogenetic transcriptomic strategy," we ... Read more >>

Diabetes (Diabetes)
[2021, 70(8):1885-1897]

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Latent Autoimmune Diabetes of Adults (LADA) Is Likely to Represent a Mixed Population of Autoimmune (Type 1) and Nonautoimmune (Type 2) Diabetes.

Angus G Jones, Timothy J McDonald, Beverley M Shields, William Hagopian, Andrew T Hattersley,

Latent autoimmune diabetes of adults (LADA) is typically defined as a new diabetes diagnosis after 35 years of age, presenting with clinical features of type 2 diabetes, in whom a type 1 diabetes-associated islet autoantibody is detected. Identifying autoimmune diabetes is important since the prognosis and optimal therapy differ. However, ... Read more >>

Diabetes Care (Diabetes care)
[2021, 44(6):1243-1251]

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Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene.

Ildem Akerman, Miguel Angel Maestro, Elisa De Franco, Vanessa Grau, Sarah Flanagan, Javier García-Hurtado, Gerhard Mittler, Philippe Ravassard, Lorenzo Piemonti, Sian Ellard, Andrew T Hattersley, Jorge Ferrer,

Despite the central role of chromosomal context in gene transcription, human noncoding DNA variants are generally studied outside of their genomic location. This limits our understanding of disease-causing regulatory variants. INS promoter mutations cause recessive neonatal diabetes. We show that all INS promoter point mutations in 60 patients disrupt a ... Read more >>

Cell Rep (Cell reports)
[2021, 35(2):108981]

Cited: 1 time

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The disproportionate excess mortality risk of COVID-19 in younger people with diabetes warrants vaccination prioritisation.

Andrew P McGovern, Nick J Thomas, Sebastian J Vollmer, Andrew T Hattersley, Bilal A Mateen, John M Dennis,

Diabetologia (Diabetologia)
[2021, 64(5):1184-1186]

Cited: 5 times

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Two decades since the fetal insulin hypothesis: what have we learned from genetics?

Alice E Hughes, Andrew T Hattersley, Sarah E Flanagan, Rachel M Freathy,

In 1998 the fetal insulin hypothesis proposed that lower birthweight and adult-onset type 2 diabetes are two phenotypes of the same genotype. Since then, advances in research investigating the role of genetics affecting insulin secretion and action have furthered knowledge of fetal insulin-mediated growth and the biology of type 2 ... Read more >>

Diabetologia (Diabetologia)
[2021, 64(4):717-726]

Cited: 2 times

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Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress.

Hossam Montaser, Kashyap A Patel, Diego Balboa, Hazem Ibrahim, Väinö Lithovius, Anna Näätänen, Vikash Chandra, Korcan Demir, Sezer Acar, Tawfeg Ben-Omran, Kevin Colclough, Jonathan M Locke, Matthew Wakeling, Maria Lindahl, Andrew T Hattersley, Jonna Saarimäki-Vire, Timo Otonkoski,

Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident protein that plays a crucial role in attenuating ER stress responses. Although MANF is indispensable for the survival and function of mouse β-cells, its precise role in human β-cell development and function is unknown. In this study, we show that ... Read more >>

Diabetes (Diabetes)
[2021, 70(4):1006-1018]

Cited: 6 times

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More on STAT1 Gain of Function, Type 1 Diabetes, and JAK Inhibition.

Matthew B Johnson, Andrew T Hattersley, Kashayp A Patel,

N Engl J Med (The New England journal of medicine)
[2021, 384(1):93]

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Processes Underlying Glycemic Deterioration in Type 2 Diabetes: An IMI DIRECT Study.

Roberto Bizzotto, Christopher Jennison, Angus G Jones, Azra Kurbasic, Andrea Tura, Gwen Kennedy, Jimmy D Bell, E Louise Thomas, Gary Frost, Rebeca Eriksen, Robert W Koivula, Soren Brage, Jane Kaye, Andrew T Hattersley, Alison Heggie, Donna McEvoy, Leen M 't Hart, Joline W Beulens, Petra Elders, Petra B Musholt, Martin Ridderstråle, Tue H Hansen, Kristine H Allin, Torben Hansen, Henrik Vestergaard, Agnete T Lundgaard, Henrik S Thomsen, Federico De Masi, Konstantinos D Tsirigos, Søren Brunak, Ana Viñuela, Anubha Mahajan, Timothy J McDonald, Tarja Kokkola, Ian M Forgie, Giuseppe N Giordano, Imre Pavo, Hartmut Ruetten, Emmanouil Dermitzakis, Mark I McCarthy, Oluf Pedersen, Jochen M Schwenk, Jerzy Adamski, Paul W Franks, Mark Walker, Ewan R Pearson, Andrea Mari, ,

<h4>Objective</h4>We investigated the processes underlying glycemic deterioration in type 2 diabetes (T2D).<h4>Research design and methods</h4>A total of 732 recently diagnosed patients with T2D from the Innovative Medicines Initiative Diabetes Research on Patient Stratification (IMI DIRECT) study were extensively phenotyped over 3 years, including measures of insulin sensitivity (OGIS), β-cell glucose ... Read more >>

Diabetes Care (Diabetes care)
[2021, 44(2):511-518]

Cited: 1 time

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Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors' Expert Forum.

Matthew C Riddle, Louis H Philipson, Stephen S Rich, Annelie Carlsson, Paul W Franks, Siri Atma W Greeley, John J Nolan, Ewan R Pearson, Philip S Zeitler, Andrew T Hattersley,

Individualization of therapy based on a person's specific type of diabetes is one key element of a "precision medicine" approach to diabetes care. However, applying such an approach remains difficult because of barriers such as disease heterogeneity, difficulties in accurately diagnosing different types of diabetes, multiple genetic influences, incomplete understanding ... Read more >>

Diabetes Care (Diabetes care)
[2020, 43(12):3117-3128]

Cited: 2 times

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Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies.

Robin N Beaumont, Sarah J Kotecha, Andrew R Wood, Bridget A Knight, Sylvain Sebert, Mark I McCarthy, Andrew T Hattersley, Marjo-Riitta Järvelin, Nicholas J Timpson, Rachel M Freathy, Sailesh Kotecha,

Babies born clinically Small- or Large-for-Gestational-Age (SGA or LGA; sex- and gestational age-adjusted birth weight (BW) <10th or >90th percentile, respectively), are at higher risks of complications. SGA and LGA include babies who have experienced environment-related growth-restriction or overgrowth, respectively, and babies who are heritably small or large. However, the ... Read more >>

PLoS Genet (PLoS genetics)
[2020, 16(12):e1009191]

Cited: 1 time

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Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.

Huseyin Demirbilek, Atilla Cayir, Sarah E Flanagan, Ruken Yıldırım, Yılmaz Kor, Fatih Gurbuz, Belma Haliloğlu, Melek Yıldız, Rıza Taner Baran, Emine Demet Akbas, Meliha Demiral, Edip Ünal, Gulcin Arslan, Dogus Vuralli, Gonul Buyukyilmaz, Sara Al-Khawaga, Amira Saeed, Maryam Al Maadheed, Amel Khalifa, Hasan Onal, Bilgin Yuksel, Mehmet Nuri Ozbek, Abdullah Bereket, Andrew T Hattersley, Khalid Hussain, Elisa De Franco,

<h4>Context</h4>Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease progression have not been well characterized.<h4>Objective</h4>To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A ... Read more >>

J Clin Endocrinol Metab (The Journal of clinical endocrinology and metabolism)
[2020, 105(12):]

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Whole blood co-expression modules associate with metabolic traits and type 2 diabetes: an IMI-DIRECT study.

Valborg Gudmundsdottir, Helle Krogh Pedersen, Gianluca Mazzoni, Kristine H Allin, Anna Artati, Joline W Beulens, Karina Banasik, Caroline Brorsson, Henna Cederberg, Elizaveta Chabanova, Federico De Masi, Petra J Elders, Ian Forgie, Giuseppe N Giordano, Harald Grallert, Ramneek Gupta, Mark Haid, Torben Hansen, Tue H Hansen, Andrew T Hattersley, Alison Heggie, Mun-Gwan Hong, Angus G Jones, Robert Koivula, Tarja Kokkola, Markku Laakso, Peter Løngreen, Anubha Mahajan, Andrea Mari, Timothy J McDonald, Donna McEvoy, Petra B Musholt, Imre Pavo, Cornelia Prehn, Hartmut Ruetten, Martin Ridderstråle, Femke Rutters, Sapna Sharma, Roderick C Slieker, Ali Syed, Juan Fernandez Tajes, Cecilia Engel Thomas, Henrik S Thomsen, Jagadish Vangipurapu, Henrik Vestergaard, Ana Viñuela, Agata Wesolowska-Andersen, Mark Walker, Jerzy Adamski, Jochen M Schwenk, Mark I McCarthy, Ewan Pearson, Emmanouil Dermitzakis, Paul W Franks, Oluf Pedersen, Søren Brunak,

<h4>Background</h4>The rising prevalence of type 2 diabetes (T2D) poses a major global challenge. It remains unresolved to what extent transcriptomic signatures of metabolic dysregulation and T2D can be observed in easily accessible tissues such as blood. Additionally, large-scale human studies are required to further our understanding of the putative inflammatory ... Read more >>

Genome Med (Genome medicine)
[2020, 12(1):109]

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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.

Elisa De Franco, Maria Lytrivi, Hazem Ibrahim, Hossam Montaser, Matthew N Wakeling, Federica Fantuzzi, Kashyap Patel, Céline Demarez, Ying Cai, Mariana Igoillo-Esteve, Cristina Cosentino, Väinö Lithovius, Helena Vihinen, Eija Jokitalo, Thomas W Laver, Matthew B Johnson, Toshiaki Sawatani, Hadis Shakeri, Nathalie Pachera, Belma Haliloglu, Mehmet Nuri Ozbek, Edip Unal, Ruken Yıldırım, Tushar Godbole, Melek Yildiz, Banu Aydin, Angeline Bilheu, Ikuo Suzuki, Sarah E Flanagan, Pierre Vanderhaeghen, Valérie Senée, Cécile Julier, Piero Marchetti, Decio L Eizirik, Sian Ellard, Jonna Saarimäki-Vire, Timo Otonkoski, Miriam Cnop, Andrew T Hattersley,

Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in β cells. We identified 6 patients from 5 families with homozygous mutations in the YIPF5 gene, which is involved ... Read more >>

J Clin Invest (The Journal of clinical investigation)
[2020, 130(12):6338-6353]

Cited: 10 times

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Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

Pamela Bowman, Frances Mathews, Fabrizio Barbetti, Maggie H Shepherd, Janine Sanchez, Barbara Piccini, Jacques Beltrand, Lisa R Letourneau-Freiberg, Michel Polak, Siri Atma W Greeley, Eamon Rawlins, Tarig Babiker, Nicholas J Thomas, Elisa De Franco, Sian Ellard, Sarah E Flanagan, Andrew T Hattersley, ,

<h4>Objective</h4><i>ABCC8</i> mutations cause neonatal diabetes mellitus that can be transient (TNDM) or, less commonly, permanent (PNDM); ∼90% of individuals can be treated with oral sulfonylureas instead of insulin. Previous studies suggested that people with <i>ABCC8-</i>PNDM require lower sulfonylurea doses and have milder neurological features than those with <i>KCNJ11-</i>PNDM. However, these ... Read more >>

Diabetes Care (Diabetes care)
[2021, 44(1):35-42]

Cited: 1 time

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All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes.

Alice E Hughes, M Geoffrey Hayes, Aoife M Egan, Kashyap A Patel, Denise M Scholtens, Lynn P Lowe, William L Lowe, Fidelma P Dunne, Andrew T Hattersley, Rachel M Freathy,

Background: Using genetic scores for fasting plasma glucose (FPG GS) and type 2 diabetes (T2D GS), we investigated whether the fasting, 1-hour and 2-hour glucose thresholds from the WHO 2013 criteria for gestational diabetes (GDM) have different implications for genetic susceptibility to raised fasting glucose and type 2 diabetes in ... Read more >>

Wellcome Open Res (Wellcome open research)
[2020, 5:175]

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Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: A National Cohort Study in England, March-July 2020.

John M Dennis, Bilal A Mateen, Raphael Sonabend, Raphael Sonabend, Nicholas J Thomas, Kashyap A Patel, Andrew T Hattersley, Spiros Denaxas, Spiros Denaxas, Andrew P McGovern, Sebastian J Vollmer,

<h4>Objective</h4>To describe the relationship between type 2 diabetes and all-cause mortality among adults with coronavirus disease 2019 (COVID-19) in the critical care setting.<h4>Research design and methods</h4>This was a nationwide retrospective cohort study in people admitted to hospital in England with COVID-19 requiring admission to a high dependency unit (HDU) or ... Read more >>

Diabetes Care (Diabetes care)
[2021, 44(1):50-57]

Cited: 26 times

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