• Queen Mary University of London
  • Barts Health NHS
  • Bradford NHS
  • Manchester Uni

S00002: Diabetes and Obesity: Stage 2 recall-by-genotype study

Lay summary:  Diabetes and Obesity: Stage 2 recall-by-genotype study

 Please provide information on the aims of the proposed research including the research question(s) that you are aiming to answer and the health condition(s) under investigation

We hope to investigate some of the causes of diabetes and obesity in people of Bangladeshi and Pakistani heritage, who have been recruited to East London Genes and Health.  We know that diabetes and obesity are more common in people of these ethnic heritages, and this is a leading cause of ill health and early death, but the reasons why this is so are not well understood.  The East London Genes & Health study allows us, as a group of researchers, to investigate whether we can connect risk of diabetes and obesity to differences in our genetic make-up, with a particular emphasis on those differences that are rare and may have relatively large effects.  East London Genes & Health provides a unique opportunity to perform such studies. We expect to provide insights that are of direct relevance to the communities concerned, and which in time, may result in improvements in the ways that we prevent, treat and monitor diabetes.

We are already investigating these gene causes of diabetes and obesity in the ‘Stage 1’ studies based on spit samples and health record data collected from those who have already agreed to participate in the study. 

Based on the results emerging from these Stage 1 studies, we now hope to use this ‘Stage 2’ study to call back some individuals who have already joined East London Genes & Health for further investigations.  We will call back those individuals where a possible gene cause of diabetes or obesity has been identified in Stage 1 genetic and health record studies, as well as some individuals, for comparative purposes, who do not have that specific genetic change.  We will then study these people further via a blood test sample, allowing us to do further genetic investigations and blood testing.

How will your research improve health in East London?

We know that diabetes and obesity are common in people in East London, and are linked to poor health and premature death.  We know that these conditions are particularly common in people of Bangladeshi and Pakistani heritage but, we do not fully understand why this is the case.  We hope that by identifying gene causes of diabetes and obesity, we will better understand who is at risk of the conditions, determine what the causes might be, and use this information to develop improved approaches for prevention and treatment of these conditions, that are of benefit to the specific communities involved, as well as more broadly.

How does your research meet the other purposes of ELGH?

The research topic (diabetes and obesity) we are proposing is a priority area for the local community.

The research fits with the wider purposes of ELGH to identify rare genetic variants (including knockouts) associated with disease in the local population, and to help understand disease processes and improve treatment approaches.

Please give a non-technical description of how the research will be undertaken

We will identify people who are suitable for this study through registers of people who have already joined East London Genes & Health and Stage 1 gene studies.  We will contact potential volunteers for this ‘Stage 2’ study with the help of the East London Genes & Health research team (including bilingual health advocates where necessary) by telephone, letter or email.  We will invite volunteers to visit us at our research centre in Whitechapel for a short visit (20 minutes maximum), run by one of the research team.  We may ask some volunteers to attend this visit fasting and, if so, we will give careful instructions of how to do this safely.  At the study visit, volunteers will be asked to give informed consent in writing, and then to have a blood sample of up to 50ml blood (4 tablespoons). 

The blood sample taken from volunteers in this study will be used to make further genetic analyses of genes that we think might be related to diabetes and obesity.  Depending on the results of the genetic studies, we will decide whether to also look at particular markers in the blood linked to diabetes and obesity, for example insulin levels measured in a laboratory, to help us understand the ways in which particular genetic changes may lead individuals to develop diabetes and/or obesity.  We will also compare the genetic and laboratory studies to electronic health record data to understand better the impact of those gene changes on individual health.

We will operate within the rules of East London Genes & Health. We will work carefully to ensure that results of our gene and laboratory studies are anonymous and that participants in the study cannot be identified through these results.

Please state the approximate number of volunteers to be included (i.e. whether the full cohort or a subset)

This is a pilot study that will allow us to evaluate how well recruitment will proceed. We will invite a small proportion of ELGH volunteers to this study.  We expect to invite up to 200 participants, and hope that between 50 and 100 will agree to join this study.


Lead Investigator

Title:               Prof

Name              Mark

Surname        McCarthy

Institution      University of Oxford


Co-applicants and collaborator details

Title                Dr

Name              Sarah

Surname        Finer

Institution      Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London


Title                Prof

Name              Jorge

Surname        Ferrer

Institution      Imperial College London


Title                Dr

Name              Hilary

Surname        Martin

Institution      Wellcome Trust Sanger Institute


Title                Prof

Name              Tim

Surname        Frayling

Institution      University of Exeter


Title                Dr

Name              Elena

Surname        Bochucova

Institution      Queen Mary University of London


Title                Prof

Name              Graham

Surname        Hitman

Institution      Queen Mary University of London


Title                Dr

Name              Claire

Surname        Morgan

Institution      Imperial College London


Title                Dr

Name              Anubha

Surname        Mahajan

Institution      University of Oxford