A fascinating triad of papers on a gene pathway (ADCY3) related to #obesity and #diabetes w/ roots at #brain neuronal "antennae" (cilia)
Really happy to see this paper online today and proud to be joint first author on it!
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes (Grarup et al.)
ADCY3 mutation increases risk of #obesity and #type2diabetes in Inuit
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes. Great story and a nice collaboration!
The discovery of rarer more penetrant polygenic trait alleles is building up a head of steam. Through massive sample size: for type 2 diabetes, and with isolated populations , here Greenland again:
Loss-of-function variants in ADCY3 increase risk of #obesity and type 2 #diabetes
We did something similar recently when we discovered a splice cite mutation associated with increased risk of obesity and type 2 diabetes in a Greenlandic population - the RNAseq data very nicely provides the mechanistic explanation for the phenotype
Loss-of-function variants in <i>ADCY3</i> increase risk of obesity and type 2 diabetes
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes