The Genetic Epidemiology of AML
Principal Investigator: Professor James Allan
Approved Research ID: 16583
Approval date: March 1st 2016
We will characterise acute myeloid leukaemia (AML) cases for natural variants in the human genome (termed single nucleotide polymorphisms; SNPs) and compare the frequency to healthy control populations. To date we have developed a case series of approximately 3500 AML cases and request access to SNP data from UK biobank participants to use as a control reference group. We also request access to SNP data from all UK Biobank participants who develop AML. Completion of this project will allow us to identify genetic variants associated with risk of developing AML and that affect response to chemotherapy, informing on disease biology. This project will identify natural variants in the human genome that affect individual risk of developing acute myeloid leukaemia (AML) and determine response to chemotherapy. Completion of this project will identify genes and cellular pathways that are involved in development of this devastating condition and that regulate disease progression. It is anticipated that this project will yield new targets for therapy and allow for the application of personalised medicine to improve the outcome of patients with AML. As such, this project meets the UK Biobank?s purpose because it is health-related and in the public interest. We have characterised approximately 2500 AML patients of European ancestry for common variants in the human genome. By comparing variant frequencies with UK healthy controls genotyped on the same platform, we have used these data to identify genes putatively associated with risk of AML. As a replication study, we have established an additional case series of approximately 1200 AML patients. As a control reference group for the validation study we request access to genetic variation data from individuals of European ancestry who took part in the UK Biobank study. We request access to genetic data (Affymetrix Axiom CEL files and genotyping data) from all UK biobank participants. Our request relates to all UK Biobank participants.