The genetics of metabolic health

Tl;dr: Around one in 200 people have a mutation that strongly increases body mass index and/or risk of type 2 diabetes.

We previously described recent studies on the genetics of obesity. A new study using both the UK Biobank and the All of Us Biobank expands on these by looking for rare variants that influence body mass index (BMI) or risk of type 2 diabetes.

Rare genetic variants that influence body mass index (left) and type 2 diabetes risk (right). From Zhao et al.

The relevant figure is shown above. For BMI, as discussed previously, carriers of some of these variants are significantly heavier on average, somewhere around 10 pounds for a man of average height. For type 2 diabetes, these rare variants increase risk of disease somewhere from 3x to over 10x.

In sum, the variants in the bolded genes in the figure above are present in around one out of 200 people. All of these variants are now reported in Crimson Iris for those who want to check their own genotypes.