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
Researcher type
Academic
Speciality area
Metabolic and Endocrine Disorders, Haematology
Summary
The research team are interested in studying several disorders that may influence energy expenditure, body composition, hunger, appetite and satiety. These currently include thyroid hormone disorders, severe insulin resistance, and obesity. Each area of study requires data from unaffected individuals for comparison purposes. The team would like to make measurements in a broad range of healthy people to build up a pool of data against which they can compare data from their study patients.
Participation: For this study we recruited 15 volunteers to the study which included an overnight stay in the Clinical Research Facility at Addenbrooke's hospital.
Organisation: This study is organised by Dr Mattia Frontini from the University of Cambridge.
Research Publication
Stefanucci L, Moslemi C, Tomé AR, Virtue S, Bidault G, Gleadall NS, Watson LPE, Kwa JE, Burden F, Farrow S; DBDS Genetic Consortium; Chen J; MAGIC; Võsa U, Burling K, Walker L, Ord J, Barker P, Warner J, Frary A, Renhstrom K, Ashford SE, Piper J, Biggs G, Erber WN, Hoffman GJ, Schoenmakers N, Erikstrup C, Rieneck K, Dziegiel MH, Ullum H, Azzu V, Vacca M, Aparicio HJ, Hui Q, Cho K, Sun YV, Wilson PW, Bayraktar OA, Vidal-Puig A, Ostrowski SR, Astle WJ, Olsson ML, Storry JR, Pedersen OB, Ouwehand WH, Chatterjee K, Vuckovic D, Frontini M. SMIM1 absence is associated with reduced energy expenditure and excess weight. Med. 2024 Jun 17:S2666-6340(24)00219-8. doi: 10.1016/j.medj.2024.05.015. Epub ahead of print. PMID: 38906141. (link).
Main Findings
The research identified a novel genetic predisposition to being overweight or obese. It highlights the need to investigate the genetic causes of obesity to select the most appropriate treatment given the large cost disparity between them.