Latest Research
Genetic Studies in Primary Biliary Cirrhosis
Dr George Mells, Dr Graeme Alexander and Dr Richard Sandford, for The UK-PBC Consortium, Cambridge Institute for Medical Research, Addenbrooke’s Hospital
Cambridge, England
The UK-PBC Consortium consists of more than 30 centres in the UK and was recently formed in order to establish a PBC DNA collection. This project will be funded by the PBC Foundation. We are extremely grateful to members of the Foundation, who have worked hard to raise the funds granted to the Consortium. In the following article, we describe the project and how individuals with PBC can participate in it.
The cause of PBC is unknown but many researchers think that PBC results from a combination of genetic and environmental factors. Diseases like this are known as complex disorders. There is good evidence that genetic factors are important in PBC. For example, close relatives of patients with PBC are slightly more likely to develop PBC than members of the general population, and identical twins both develop PBC more frequently than non-identical twins. As you know, the absolute risk remains very low and that PBC cannot be passed on like an infectious disease.
Previous genetic research has found an association between PBC and a gene called HLA-DR8, which is important for controlling the immune system. However, relatively few patients with PBC carry this gene, which suggests there must be other genes which are also important.
Over the last few years, there have been exciting developments in the field of genetics which have dramatically changed the way researchers investigate complex disorders. It is now possible to scan the entire genome (the genome being a person’s complete DNA sequence) in thousands of people with a disease to identify genes which may be associated with the condition. This type of study is called a whole genome association study or whole genome scan. Whole genome scans have already been performed with considerable success in other complex diseases such as type 1 diabetes mellitus and Crohn’s disease. These successes open up the possibility of carrying our similar research in to the genetic causes of PBC.
By collaborating with other researchers throughout the UK we plan to carry out a whole genome scan of people with PBC. We hope this will enable us to locate and identify the genes which contribute to this important disease. Knowing the genes which contribute to PBC will put researchers in a better position to develop new and more effective treatments.
There is one major hurdle: several thousand patients are necessary for a whole genome scan to be successful. We are therefore collaborating with many doctors throughout the UK who are involved in the care of people with PBC to help us recruit the number of patients needed for the project to succeed.. If you have PBC you may be contacted by your own doctor with information about this study. You can also contact us directly for more information. Taking part in this project will involve completing a short questionnaire and providing a sample of blood or saliva- and no more! The saliva or blood will be used to obtain DNA for further analysis. We hope to have provisional answers after approximately 2000 DNA samples have been analysed.
The study has been approved by the Research Ethics Committee.
If you have PBC and are interested in participating in this project, please contact us via the website, by e-mail at pbc@cimr.cam.ac.uk or at the following address:
Freepost RRUE-KGTZ-LZAS
The PBC Genetics Study
Cambridge Institute for Medical Research
Wellcome/MRC Building, Addenbrooke’s Hospital
Hills Road
Cambridge CB2 0XY