Defining the contribution of SNPs identified in GWAS to clinical variables defining asthma

Asthma is a common disease with an unresolved aetiology affecting up to 10% of the population. Improving treatment options, particularly for severe refractory asthma requires a better understanding of disease mechanisms. Asthma is a complex disease involving both genetic and environmental factors (e.g. allergen exposure) resulting in disease expression. Molecular genetics holds great promise to identify new genes and pathways involved in asthma providing new therapeutic opportunities.

Asthma genome-wide association studies (GWAS) have identified several asthma susceptibility genes with confidence. However the relative contribution of these genetic variants or single nucleotide polymorphisms (SNPs) to clinical endpoints remains largely unknown. This is as opposed to disease diagnosis.

The aim of this studentship is to:

1. bridge this gap in knowledge using a cohort of well characterised asthma patients. The Genetics of Asthma Severity and Phenotypes cohort (GASP) involves recruitment from 16 centres across the UK
2. investigate whether GWAS SNPs or those that are in linkage disequilibrium are likely to be functional candidates. This is with respect to regulation of gene expression and function.

Available to Home/EU/International students.

Please email a CV with a covering letter to Professor Ian Sayers.