Genetic variation and immune cell function
Research type
Research Study
Full title
Genetic variation and Immune cell function: understanding immune gene function by studying the impact of changes in gene sequence on human immune responses
IRAS ID
227768
Contact name
Daniel J. Pennington
Contact email
Sponsor organisation
Queen Mary University of London
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Susceptibility to human immune disorders is dictated by an interplay between environmental and genetic factors. As far as genetic variation is concerned, several genome wide association studies (GWAS) have implicated different portions of the human genome in which changes in genetic sequence can predispose to immune disorders such as multiple sclerosis, type I diabetes, inflammatory bowel disease, rheumatoid arthritis and allergies. Unfortunately, for many of these genomic regions, it is not clear which genes or molecular mechanisms are involved in disease predisposition.
This study will investigate the links between human genetic variation and immune function by studying the impact of rare genetic variants in the development, distribution and function of immune cells. More specifically, we will compare blood cells from individuals with changes in their gene sequence that are predicted to affect the protein that they encode, to those in which those gene sequences are the same as the general population. In order to identify these individuals with changes in their gene sequence, we will work in partnership with East London Genes and Health (ELGH) program, which aims to establish a panel of DNA sequences from 100,000 adult volunteers of Bangladeshi and Pakistani descent, in order to identify rare human genetic variants.
For this work we will invite volunteers to donate blood so that we can evaluate the distribution of different immune cells in their blood as well as their ability to function normally. Volunteers will also be asked to share their GP and medical records with the study team so that we can analyse their natural history of infection.
REC name
London - South East Research Ethics Committee
REC reference
17/LO/1061
Date of REC Opinion
26 Jul 2017
REC opinion
Further Information Favourable Opinion