A genome-wide association study of blood cell morphology led by the BSU identifies cellular proteins implicated in disease aetiology.
Blood cells are crucial for human survival, they carry oxygen around the body, help form clots to heal wounds, and fight infections. Many of the jobs blood cells perform depend on chemicals stored in their internal structures. For example, platelet cells store chemicals required for clot formation in particles called granules, which are released by the cells during wound healing.
Genetic differences between people that are associated with variation in the internal structures of blood cells have been identified for the first time by researchers at the MRC Biostatistics Unit and their collaborators at the Wellcome Sanger Institute (Prof Nicole Soranzo), the Department of Public Health and Primary Care (Prof Adam Butterworth) and the Department of Haematology (Prof Willem Ouwehand).
Former BSU Research Assistant, Dr Parsa Akbari, whose PhD was supervised by Dr William Astle from the BSU, Professor Soranzo and Professor Butterworth, identified the associated genetic variants using data from the INTERVAL study of blood donors.
Dr Akbari used the newly discovered genetic variants to show that a gene called ZFPM2, which codes for a protein called FOG2, is likely to be involved in the formation of a particular type of granule (called the α-granule) in platelets. He also showed how genetic associations with internal structures of blood cells can be used to pin down the types of cell involved in processes that lead to the development of diseases.
Dr Akbari said: “Our study showed that genetic variants in the genes IL2RA and ITGA4 mirror the biological effects of drugs that have been used to treat multiple sclerosis and inflammatory bowel disease respectively. Understanding which types of cell are involved in disease processes is an important part of developing new drugs.”
Read full paper: Akbari, P., Vuckovic, D., Stefanucci, L. et al. A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology. Nat Commun 14, 5023 (2023)