Research Case Studies

Thanks to our thousands of volunteers, Generation Scotland samples are helping scientists with a wide variety of research projects. Generation Scotland has collected over 30,000 samples in a way which allows researchers to select the right samples and data for their research while keeping participants' identities confidential. All research carried out on Generation Scotland samples and data must first be approved by the GS Access Committee.

Here we summarise some key 'case studies' which show how Generation Scotland data and samples are being used.

The Scottish Family Health Study - A Summary

The Role of Genes in Asthma, Bronchitis and Emphysema

A Study of Genes in Depression

Predicting our Risk of Cardiovascular Disease

Markers for Subclinical Cardiovascular Risk Assessment (EU-MASCARA)

Deciphering Developmental Disorders (DDD)

Further case studies can be found in our Case Study Library

You can also go to our Research Publications page to see papers that have been published with the help of Generation Scotland resources.

Case Studies

 The Scottish Family Health Study - A Summary

Prof Blair H Smith, University of Aberdeen

We have prepared a profile of all participants in the Scottish Family Health Study. Our aim is to summarise the available information so that other researchers can easily see whether GS: SFHS samples and data are useful for their studies. Some of the key features of GS:SFHS include:


1. Families - the recruitment of families, which is a major advantage for certain types of genetic research

2. Clinical information - the large amount of information collected from participants, particularly on thinking skills, memory and mental health

3. Samples - the collection of biological samples which can be used for a range of studies including biochemical and genetic test

4. Record linkage - the way in which participants' information can be linked to healthcare records

5. Consent - the way in which consent was obtained from participants, which will allow their data and samples to be used for a wide range of different medical research projects.

This study has now been published in the International Journal of Epidemiology.


 The Role of Genes in Asthma, Bronchitis and Emphysema

Prof Colin N A Palmer, University of Dundee

extraction_200Many people in Scotland suffer from shortness of breath caused by chronic bronchitis and emphysema (together known as chronic obstructive pulmonary disease, COPD) or asthma. Our research team is studying how our genes affect our risk of suffering from COPD and asthma. We are also interested in how genes affect the way patients respond to different drugs that are used to treat asthma and COPD.

We do not know at present what causes asthma, but if one or both parents have asthma, a child is more likely to have it. This suggests that genetic factors are important. However many aspects of modern lifestyles may also have added to the rise in asthma. To help us untangle the effects of genes and lifestyle in Scottish asthma patients, we are using the Generation Scotland Donor DNA Databank (GS:3D) collection of DNA samples and data from healthy blood donors in Scotland.

Many genetic variants (small changes in the DNA sequence) are already suspected to affect asthma risk. We will measure how common these variants are in the GS:3D samples compared to the patients. The GS:3D collection is particularly useful for our study because it provides us with a large number of healthy donor samples from the same population as the patients.


 A Study of Genes in Depression

Dr Pippa Thomson, University of Edinburgh

Using samples from the Scottish Family Health Study, we are investigating genes Lab2_020_200that might be involved in depression. We are carrying out a 'case-control' study, which is a way of investigating how small differences in our DNA (genetic variants) might increase our chance of getting a particular disease.

From the SFHS database we selected participants with a diagnosis of major depression (cases) and a similar number of unaffected participants (controls). We are now comparing the genetic make-up of the two groups by testing for genetic variants that are thought to be involved in conditions such as Alzheimer’s disease, schizophrenia, bipolar disorder or unipolar disorder. Like depression, these conditions affect the mental processes we use for thinking, learning and reasoning (cognition). If we can find genetic variants that are shared between these conditions and depression, we may be able to identify genes that are important for normal cognition.


 Predicting Our Risk of Cardiovascular Disease

Dr Sandosh Padmanabhan, University of Glasgow


Cardiovascular disease affects the heart and blood vessels and is a very common cause of poor health, disability and early death in Scotland. Cardiovascular disease can lead to hardening and blockage of the arteries, which may result in a heart attack. We are using Generation Scotland resources to work out a way of predicting how likely it is that a person will develop cardiovascular disease.

By combining measurements from Scottish Family Health Study participants – such as height, weight, blood pressure, cholesterol level, and heart activity – and looking at participants’ medical records in the years to come, we can see who goes on to develop heart disease, and which risk factors are the most important.

We are also interested in families where more than one person has suffered from cardiovascular disease, as this can give us clues about the genes that might be involved. In the future it might be possible to use genetic tests to identify people who have a high chance of developing cardiovascular disease. Genetic tests might also be able to tell us who will respond best to different drugs.


  Markers for Subclinical Cardiovascular Risk Assessment (EU-MASCARA)

Prof Anna F Dominiczak, University of Glasgow

EU_MASCARA_resizedCardiovascular disease (CVD) is the major cause of morbidity and mortality in Europe and other Western societies. The FP7-funded Europe-wide collaborative project EU-MASCARA (Markers for Subclinical Cardiovascular Risk Assessment) aims to improve diagnosis of cardiovascular diseases and prediction of cardiovascular risk by analysing an extensive panel of biomarkers. The consortium is co-ordinated by the University of Glasgow and strongly supported by contributions of SMEs in key areas of the research: biomarker testing, data handling and analysis, assay development and project management. EU-MASCARA will make use of a wide range of patient and population cohorts from different European regions, of which GS:SFHS is one. The GS resource will be particularly well suited for validation of biomarker findings and assessment of risk prediction models in a cohort where risk factors may be present but advanced CVD has not yet been diagnosed. The EU-MASCARA project has received funding from the European Community’s Seventh Framework Programme (FP7/2007-2013) under Grant Agreement no 278249.


 Deciphering Developmental Disorders

Dr Matthew Hurles, Wellcome Trust Sanger Institute, on behalf of the DDD Study


The Deciphering Developmental Disorders (DDD) study ( aims to find out if using new genetic technologies can help the understanding of why patients get developmental disorders. To do this, doctors in the 23 NHS Regional Genetics Services throughout the UK are working together with scientists at the Wellcome Trust Sanger Institute. DNA samples from some Generation Scotland families have been provided, to act as normal “controls”. The DDD study involves experts in clinical, molecular and statistical genetics, as well as ethics and social science. The DDD research team is keen to gather views on the ethical implications of whole genome testing. Anyone can answer the questionnaire whether they are involved in the study or are just an interested member of the public, or indeed a participant in Generation Scotland. Please click here to start the questionnaire.


Case Study Library

Further case studies can be found in our Case Study Library

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