ROVIM – Role of blood group VEL in metabolism.

Study code
NBR39

Lead researcher
Dr Mattia Frontini

Study type
Participant re-contact

Institution or company
University of Cambridge

Speciality area
Metabolic and Endocrine Disorders, Haematology

Summary

The antigen determining the blood group Vel is the Smim1 protein. The role of the Smim1 protein is elusive, but the genetic analysis of UK Biobank participants determined that this gene is associated with several red blood cell parameters and also, unexpectedly, with weight, body mass and fat accumulation that are typically observed when there is an energy imbalance.  The absence of the high frequency blood group Vel is determined by a 17 base pairs deletion in both copies of the SMIM1 gene which is present in 1 in 5000 English blood donors. With this project we would like to determine the causes of the energy imbalance observed in individuals lacking the Vel blood group.