The function of genetic variants in immune cells
Research type
Research Study
Full title
The function of genetic variants in immune cells
IRAS ID
169847
Contact name
Gosia Trynka
Contact email
Sponsor organisation
Genome Research Ltd
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
A large proportion of our DNA sequence is identical when individual people are compared. However, each of us also carries many single changes in DNA sequence (genetic variants). The vast majority of these variants are harmless, e.g. they can contribute to the normal variability in individuals, however, some variants have been linked to diseases. Hundreds of genetic variants are currently linked to diseases that affect immune system, such as type-1 diabetes, rheumatoid arthritis, celiac disease, inflammatory bowel disease and others. Altogether these diseases can be found in 1 in 10 individuals.
The molecular mechanisms by which genetic variants predispose an individual to the development of immune diseases are largely unknown. Many of these variants localize close to DNA sequences which do not ‘code’ for proteins (genes), indicating that they may have a regulatory function. Indeed, we previously showed that variants associated with immune diseases overlap with DNA sequences that have gene regulatory activity in immune cells. We do not, however, understand the functional consequences of this overlap.
This study aims to elucidate the effects of some of this genetic variation on the function of immune cells. For that we will isolate immune cells from peripheral blood obtained from consented, anonymous, healthy blood bank donors. We will then study the correlation between changes in DNA sequence and the regulation of gene activity and physiology of immune cells.
We anticipate that generating and analysing the data will take up to five years. We believe that the data generated in this project will provide important insights into the genetic control of the immune system response and will help to link disease associated variants with pathological processes in immune mediated diseases, thereby facilitating the development of targeted therapies.
REC name
North West - Preston Research Ethics Committee
REC reference
15/NW/0282
Date of REC Opinion
23 Mar 2015
REC opinion
Favourable Opinion