INSTITUTE OF BIOMEDICAL AND BIOMOLECULAR SCIENCES
Speaker: Dr Will Tapper, University of Southampton
HOST –
Dr Qian An, PHBM
Title:
A genome-wide association study of myeloproliferative
neoplasms and follow-up by next generation sequencing
Abstract:
Myeloproliferative neoplasms (MPNs) are disorders of the blood system that are
typically caused by mutations that are acquired at the stem cell level, resulting in a clonal
expansion of cells down one or more of the myeloid lineages, to produce elevated erythrocytes
in polycythaemia, platelets in essential thrombocythaemia, and platelets and granulocytes
accompanied by bone marrow fibrosis in myelofibrosis. Epidemiological studies have suggested
common genetic variation predisposes to the development of myeloproliferative neoplasms
(MPN) in the general population. To identify such variants we carried out a three stage genomewide association study (GWAS) focusing on V617F-negative MPNs. This study detected SNPs in
or close to two genes, EVI1 and ITGA8, which alter the risk of developing JAK2 V617F negative
MPN. Two further loci approach statistical significance and one of these is associated with
reduced MYB expression.
Date & Venue:
Wednesday, 20th November at 4pm
Lecture Theatre 0.01, King Henry Building
Colleagues are invited to take the opportunity to join our guest speaker for light
refreshments in the foyer of King Henry Building Building