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The role of complex genetic variation of immune system genes in
respiratory health and disease
Supervisors: Dr Louise Wain and Dr Ed Hollox
Respiratory disease is major public health concern and the third leading cause of death globally.
Genome-wide association studies (GWAS) have identified multiple regions of the genome associated
with respiratory health and disease and amongst these, one of the strongest signals of association is
in the Human Leukocyte Antigen (HLA) region gene cluster on chromosome 6 which encodes
proteins with essential roles in the immune system. However, the HLA region is complex and
understanding the mechanisms underlying the genetic signals of association in this region requires
sophisticated analytical approaches. Bespoke computational methods which measure variation of
the HLA region, and of other clusters of functionally-related genes, at both the genetic and protein
level, have been developed. This project will involve applying these methods to large general
population cohorts to explore both the direct and interactive effects of variation at immune gene
clusters on respiratory traits and disease.
The student will develop research skills at the interface of genetics, statistics and computer science
which will equip them for a career in the exciting and fast-moving field of genetic epidemiology. A
background in bioinformatics, genetics or statistics is preferred and a keen interest in developing
further skills in all of those areas, and in the use of high performance computing to analyse very
large data sets, is essential.