Scientists Identify Rare Gene Variants Linked to 6-Fold Increase in Obesity Risk

Genetic variations in two genes that have some of the biggest effects on obesity risk found to far have been found by Cambridge researchers.

Some of the first genes linked to obesity that have been found to have uncommon variations are BSN and APBA1, for which the increased risk of obesity is not evident until maturity.

The Medical Research Council (MRC) Epidemiology Unit and the MRC Metabolic Diseases Unit at the Institute of Metabolic Science, both located at the University of Cambridge, provided leadership for the study, which was published in Nature Genetics.

The researchers performed whole exome sequencing of body mass index (BMI) in over 500,000 individuals using data from the UK Biobank and other sources.

Researchers discovered that genetic variations in the BSN gene, sometimes referred to as Bassoon, can up the risk of obesity by up to six times. These variants have also been linked to an elevated risk of type 2 diabetes and non-alcoholic fatty liver disease.

The mutations in the Bassoon gene were discovered to impact 1 in 6,500 adults, meaning that roughly 10,000 individuals in the UK may be affected.