Publications

Publication: Nature Genetics

Samuel A. Lambert, Laurent Gil, Simon Jupp, Scott C. Ritchie, Yu Xu, Annalisa Buniello, Aoife McMahon, Gad Abraham, Michael Chapman, Helen Parkinson, John Danesh, Jacqueline A. L. MacArthur & Michael Inouye

10 March 2021

Summary

Researchers have led a report describing an important new set of reporting guidelines and an international open science database for polygenic risk scores, which are powerful genomic tools being increasingly used to predict disease outcomes and traits.

The Polygenic Score (PGS) Catalog is an open resource of published scores (including variants, alleles and weights) and consistently curated metadata required for reproducibility and independent applications.

The PGS Catalog has capabilities for user deposition, expert curation and programmatic access, thus providing the community with a platform for PGS dissemination, research and translation.

It promotes PGS reproducibility by providing a venue to annotate and distribute scores according to current exemplar reporting standards. As such, it allows users to reuse and evaluate PGSs, to firmly establish their predictive ability and facilitate further investigations of clinical utility.

• Visit the PGS Catalog website: https://www.PGSCatalog.org

Publication: Cell

Olafsson S, McIntyre RE, Coorens T, Butler T, Jung H, Robinson PS, Lee-Six H, Sanders MA, Arestang K, Dawson C, Tripathi M. Somatic evolution in non-neoplastic IBD-affected colon.

6 August 2020

Summary

Inflammatory bowel disease (IBD) is a chronic inflammatory disease associated with increased risk of gastrointestinal cancers. We whole-genome sequenced 446 colonic crypts (intestinal glands in the colon) from 46 IBD patients and compared these to 412 crypts from 41 non-IBD controls from our previous publication on the mutation landscape of the normal colon.

Publication: The Journal of Nutrition

Pearce, M., Fanidi, A., Bishop, T., Sharp, S., Imamura, F., Dietrich, S., Akbaraly, T., Bes-Rastrollo, M., Beulens, J., Byberg, L., Canhada, S., Molina, M., Chen, Z., Cortes-Valencia, A., Du, H., Duncan, B., Härkänen, T., Hashemian, M., Kim, J., Kim, M., Kim, Y., Knekt, P., Kromhout, D., Lassale, C., Ridaura, R., Magliano, D., Malekzadeh, R., Marques-Vidal, P., Martínez-González, M., O’Donoghue, G., O’Gorman, D., Shaw, J., Soedamah-Muthu, S., Stern, D., Wolk, A., Woo, H., Wareham, N. and Forouhi, N.

9 March 2021

The consumption of legumes is promoted as part of a healthy diet in many countries but associations of total and types of legume consumption with type 2 diabetes (T2D) are not well established. Analyses across diverse populations are lacking despite the availability of unpublished legume consumption data in prospective cohort studies.

In this study the researchers examined the prospective associations of total and types of legume intake with the risk of incident T2D.

Meta-analyses of associations between total legume, pulse, and soy consumption and T2D were conducted, using data from 807,785 adults without diabetes in 27 cohorts across the Americas, Eastern Mediterranean, Europe, and Western Pacific.

The findings suggest no evidence of an association of legume intakes with T2D in several world regions. The positive association observed in some European studies warrants further investigation relating to overall dietary contexts in which legumes are consumed, including accompanying foods which may be positively associated with T2D.

Publication: Stroke Aha

Eric L. Harshfield, Marios K. Georgakis, Rainer Malik, Martin Dichgans, Hugh S. Markus

4 February 2021

Summary

Assessing whether modifiable risk factors are causally associated with stroke risk.

Publication: MedRxiV

Angela Wood, Rachel Denholm, Sam Hollings, Jennifer Cooper, Samantha Ip,  Venexia Walker, Spiros Denaxas, Ashley Akbari, Jonathan Sterne, Cathie Sudlow, Rachel Denholm, Sam Hollings, Jennifer Cooper, Samantha Ip, Venexia Walker, Spiros Denaxas, Amitava Banerjee, William Whiteley, Alvina Lai, Rouven Priedon, Cathie Sudlow, Lynn Morrice, Debbie Ringham, Suzannah Power, Lynn Laidlaw, Michael Molete, John Walsh, Garry Coleman, Cath Day, Elizabeth Gaffney, Tim Gentry, Lisa Gray, Sam Hollings, Richard Irvine, Brian Roberts, Estelle Spence, Janet Waterhouse

23 February 2021

Summary:

A new population-wide health data resource to accelerate research on COVID-19 and cardiovascular disease in England.

This work has been led by the CVD-COVID-UK consortium in partnership with NHS Digital. The CVD-COVID-UK consortium is a collaborative group of more than 130 members across 40 institutions working to understand the relationship between COVID-19 and cardiovascular diseases. The consortium is managed by the British Heart Foundation (BHF) Data Science Centre, led by Health Data Research UK.

Publication: MedRxiV

Martin Wiegand, Sarah L. Cowan, Claire S. Waddington, David J. Halsall,  Victoria L. Keevil,  Brian D. M. Tom, Vince Taylor,  Effrossyni Gkrania-Klotsas, Jacobus Preller,  Robert J. B. Goudie

18 February 2021

Summary

Researchers propose a prognostic dynamic risk stratification for 48-hour in-hospital mortality in patients with COVID-19, using demographics and routinely-collected observations and laboratory tests: age, Clinical Frailty Scale score, heart rate, respiratory rate,

Publication: Frontiers in Psychiatry

Rudolf N. Cardinal, Caroline E. Meiser-Stedman,  David M. Christmas,  Annabel C. Price,  Chess Denman,  Benjamin R. Underwood,  Shanquan Chen,  Soumya Banerjee,  Simon R. White,  Li Su,  Tamsin J. Ford,  Samuel R. Chamberlain and  Catherine M. Walsh

25 February 2021

Summary:

Simulated transmission of a COVID-19-like disease in a hypothetical community care team under different conditions.

Publication: Journal of Neurology, Neurosurgery and Psychiatry

9 February 2021

Summary

Researchers looked at the clinical features associated with survival in the syndromes related to frontotemporal lobar degeneration, including frontotemporal dementia, progressive suprnuclear palsy and corticobasal syndrome.

They found that behavioural disturbance, including impulsivity and apathy, is associated with reduced functionally independent survival.

Publication: International Journal of Epidemiology

Aurora Perez-Cornago , Francesca L Crowe, Paul N Appleby, Kathryn E Bradbury, Angela M Wood, Marianne Uhre Jakobsen, Laura Johnson, Carlotta Sacerdote, Marinka Steur, Elisabete Weiderpass, Anne Mette L Würtz, Tilman Kühn, Verena Katzke, Antonia Trichopoulou, Anna Karakatsani, Carlo La Vecchia, Giovanna Masala, Rosario Tumino, Salvatore Panico, Ivonne Sluijs, Guri Skeie, Liher Imaz, Dafina Petrova, J Ramón Quirós, Sandra Milena Colorado Yohar, Paula Jakszyn, Olle Melander, Emily Sonestedt, Jonas Andersson, Maria Wennberg, Dagfinn Aune, Elio Riboli, Matthias B Schulze, Emanuele di Angelantonio, Nicholas J Wareham, John Danesh, Nita G Forouhi, Adam S Butterworth, Timothy J Key

3 March 2021

Summary

Epidemiological evidence indicates that diets rich in plant foods are associated with a moderately lower risk of ischaemic heart disease (IHD), but there is sparse information on fruit and vegetable subtypes and sources of dietary fibre.

This study found that higher intakes of fruit and vegetables combined, total fruit, bananas, nuts and seeds, total fibre, fruit and vegetable combined fibre and fruit fibre are associated with a lower risk of IHD, of small magnitude.

To the best of the researchers’ knowledge, this is the largest prospective study looking at major plant foods, their subtype, and dietary fibre in relation to IHD risk including incident IHD cases and death from IHD.

As with other observational studies, the associations reported may be subject to residual confounding, and whether these small associations are causal remains unclear.

Publication: European Radiology

James W. MacKay, Faezeh Sanaei Nezhad, Tamam Rifai, Joshua D. Kaggie, Josephine H. Naish, Caleb Roberts, Martin J. Graves, John C. Waterton, Robert L. Janiczek, Alexandra R. Roberts, Andrew McCaskie, Fiona J. Gilbert & Geoff J. M. Parker

16 February 2021

Summary

Using a method called dynamic contrast enhancement, where gadolinium contrast is used to detect synovitis (inflammation) in the knee, as a predictor of osteoarthritis. Researchers follow patients for 6-months to detect changes and found it may predict osteoarthritis development.

Publication: Authorea

Publication: ELife

William L Hamilton, Dinesh Aggarwal, Charlotte Houldcroft, Ben Warne, Luke Meredith, Myra Hosmillo, Aminu Jahun,  Laura Caller, Sarah Caddy, Fahad Khokhar, Anna Yakovleva, Grant Hall, Theresa Feltwell, Malte Pinckert, Iliana Georgana, Yasmin Chaudhry, Nicholas Brown, Ewan Harrison,  Gordon Dougan, Sharon Peacock,   Ian Goodfellow,  M. Estee Torok

16 February 2021

Summary:

Approximately 70% of residents in the genomic analysis were admitted to hospital during the study period, providing extensive opportunities for transmission between care homes and hospitals. Limiting viral transmission between care home residents should be a key target for infection control to reduce COVID-19 mortality in this population

Publication: bioRxiv Preprint

Thomas L. Williams, Maria T. Colzani, Robyn G.C. Macrae, Emma L. Robinson, Stuart Bloor, Edward J. D. Greenwood, Jun Ru Zhan, Gregory Strachan, Rhoda E. Kuc, VDuuamene Nyimanu, View Janet J. Maguire, Paul J. Lehner, Sanjay Sinha, Anthony P. Davenport

21 January 2021

Summary:

Patients with heart disease are more susceptible to severe infection with SARS CoV-2, and the virus is thought to damage cardiovascular tissue. Researchers developed a test to screen medicines that are currently in use for other conditions to see if they would block the entry of the SARS-CoV-2 virus and protect the heart and surrounding tissues.

Researchers found beating heart cells have the same special proteins SARS-CoV-2 virus uses to enter the patient’s tissues and used these cells to model a new system. Safely done in the laboratory, researchers looked at a virus and concentrated on the spike protein so it can infect the cells, but once inside the virus was unable to make copies of itself.

The researchers were then able to test compounds and licenced medicines to block the virus entering the heart cells in order to find a suitable treatment. This new screening gives the opportunity to test a wide range of medicines as well as new anti-viral drugs that are currently being developed.

Doing this and blocking entry of the virus can protect the heart and other tissues during infection. It will also help finding the best medicine to help stop patients getting seriously ill from SARS CoV-2.

Publication: The American Journal of Clinical Nutrition

Braithwaite, V., Mwangi, M., Jones, K., Demir, A., Prentice, A., Prentice, A., Andang’o, P. and Verhoef, H.

1 March 2021

Publication:  Journal of Human Nutrition and Dietetics,.

Lynsey N. Spillman, Arabella Melville-Claxton, Gillian A. Gatiss, Nicola Fernandez, Angela M. Madden

01 March 2021

Summary

Liver transplant recipients are given diet and physical activity advice to aid recovery and promote long-term health. The present study aimed to explore patients’ experiences of receiving and implementing diet and physical activity advice after liver transplant and identify barriers and facilitators to following recommendations.

Publication: American Journal of Preventive Medicine

Hajna, S., Sharp, S., Cooper, A., Williams, K., van Sluijs, E., Brage, S., Griffin, S. and Sutton, S.

1 March 2021

Around 23% of adults worldwide are insufficiently active. Wearable devices paired with virtual coaching software could increase physical activity. The effectiveness of 3 minimal contact interventions (paper-based physical activity diaries, activity trackers, and activity trackers coupled with virtual coaching) in increasing physical activity energy expenditure and cardiorespiratory fitness were compared over 12 weeks among inactive adults.

This was an open label, parallel-group RCT. Inactive adults were randomized to no intervention (Control; n=121), paper-based diary (Diary; n=124), activity tracker (Activity Band; n=122), or activity tracker plus virtual coaching (Activity Band PLUS; n=121) groups. Coprimary outcomes included 12-week changes in physical activity energy expenditure and fitness (May 2012–January 2014). Analyses were conducted in 2019–2020.

There were no differences between groups overall (physical activity energy expenditure: p=0.114, fitness: p=0.417). However, there was a greater increase in physical activity energy expenditure (4.21 kJ/kg/day, 95% CI=0.42, 8.00) in the Activity Band PLUS group than in the Diary group. There were also greater decreases in BMI and body fat percentage in the Activity Band PLUS group than in the Control group and in theActivity Band PLUS group than in the Diary group.

Coupling activity trackers with virtual coaching may facilitate increases in physical activity energy expenditure compared with a traditional paper‒based physical activity diary intervention and improve some secondary outcomes compared with a traditional paper‒based physical activity diary intervention or no intervention.

Publication: European Journal of Epidemiology

Stephen Burgess, Sonja A Swanson & Jeremy A Labrecque

21 February 2021

Mendelian randomization uses genetic variants as instrumental variables to make causal inferences about the effect of a risk factor on an outcome. If a genetic variant satisfies the instrumental variable assumptions for the given risk factor and outcome, then an association between the genetic variant and the outcome implies the risk factor affects the outcome in some individuals at some point in the life-course.

Combining the instrumental variable assumptions with further assumptions and precise specification of the outcome (including specifying a time period for the outcome) allows valid testing of a more specific causal hypothesis and/or valid estimation of global or local, and point or period average causal effects.

In this short manuscript, the researchers discuss three ways in which Mendelian randomization analyses may be susceptible to bias due to reverse causation. They conclude that while the analyses offer some protection against biases, they are not totally immune from the phenomenon; and that researchers should consider carefully whether their findings could be explained by genetic variants having a primary association with the outcome, and how previous versions of an outcome can impact the stated risk factor.

Publication: OSF Preprints

Christopher J. R. Illingworth,  William L. Hamilton,  Ben Warne, Matthew Routledge, Ashley Popay, Chris Jackson, Tom Fieldman, Luke Meredith, Charlotte J. Houldcroft, Myra Hosmillo, Aminu Jahun, Laura Caller, Sarah Caddy, Anna Yakovleva, Grant Hall, Fahad A. Khokhar, Theresa Feltwell, Malte L. Pinckert, Iliana Georgana, Yasmin Chaudhry, Dominic Sparkes, Lucy Rivett, Nick K. Jones, Sushmita Sridhar, Sally Forrest, Tom Dymond, Kayleigh Grainger, Chris Workman, Effrossyni Gkrania-Klotsas, Nicholas M. Brown, Michael P. Weekes, Stephen Baker, Sharon J. Peacock, Ian Goodfellow, Theodore Gouliouris, Daniela De Angelis, M. Estée Török

15 February 2021

Summary

The SARS-CoV-2 virus has been noted both for its rapid spread, but also for the heterogeneity of transmission, with incidences noted of superspreading behaviour.

Researchers applied a novel network reconstruction algorithm to find patterns of viral transmission occurring between patients and health care workers.

Publication: Science

Fotios Sampaziotis, Daniele Muraro, Olivia C. Tysoe, Stephen Sawiak, Timothy E. Beach, Edmund M. Godfrey, Sara S. Upponi, Teresa Brevini, Brandon T. Wesley, Jose Garcia-Bernardo, Krishnaa Mahbubani, Giovanni Canu, Richard Gieseck, Natalie L. Berntsen, Victoria L. Mulcahy, Keziah Crick, Corrina Fear, Sharayne Robinson, Lisa Swift, Laure Gambardella, Johannes Bargehr, Daniel Ortmann, Stephanie E. Brown, Anna Osnato, Michael P. Murphy, Gareth Corbett, William T. H. Gelson, George F. Mells, Peter Humphreys, Susan E. Davies, Irum Amin, Paul Gibbs, Sanjay Sinha, Sarah A. Teichmann, Andrew J. Butler, Teik Choon, Espen Melum, Christopher J. E. Watson, Kourosh Saeb-Parsy, Ludovic Vallier

18 February 2021

Summary:

Researchers in Cambridge have found a way to grow ‘mini bile ducts’ in a lab-setting to repair damaged livers. This new technique could potentially help treat patients whose own livers are not functioning correctly.

Using a recently developed ‘perfusion system’, they were able to transplant biliary cells grown in the lab known as cholangiocytes organoids into damaged human livers to repair them.

This is the first time that a procedure of this kind has been used on human donor organs. It could also increase the number of livers that are considered suitable for organ transplantation and ultimately save more lives.

Read the full story

Publication: Neurobiology of Ageing

ElijahMaka, NeginHolland, P. Simon Jones, George Savulich, Audrey Lowa, Maura Malpetti, Sanne Kaalund, Luca Passamonti, Timothy Rittman, Rafael Romero-Garciaa, Roido Manavakic, Guy B.Williams, Young T.Hong, Ti m D. Fryerb, Franklin I. Aigbirhio, John O’Brien, James Rowe

30 January 2021

Summary

Researchers found in neurodegenerative disorders of Progressive Supranuclear Palsy and Corticobasal Degeneration, the core communication units of the brain (present on nerve cell ‘bodies’ and ‘tails’) are tightly coupled together and are both significantly reduced by the disease process. The research shows changes in the brain of patients with neurodegenerative disorders and can help inform the design of clinical trials