Two new studies identify rare homozygous variants in ADCY3 that are causal for monogenic obesity in consanguineous families of Pakistani origin and are associated with increased risk of obesity in Greenlandic individuals. Greenlandic carriers of homozygous loss-of-function variants in ADCY3, and individuals from trans-ancestry studies with a burden of rare ADCY3 loss-of-function variants, also have increased risk of type 2 diabetes.
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Barroso, I. ADCY3, neuronal primary cilia and obesity. Nat Genet 50, 166–167 (2018). https://doi.org/10.1038/s41588-018-0043-x
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DOI: https://doi.org/10.1038/s41588-018-0043-x