genomicsdoge.bsky.social
@genomicsdoge.bsky.social
5/7 We also found a few noteworthy novel protective coding hits: PTPRT:p.Arg1384His associates with lower BMI and points to the leptin–melanocortin axis. As phosphatases are considered druggable, this could be a potential anti-obesity target to explore.
October 16, 2025 at 6:54 PM
4/7 An almost identical variant has previously been found in labrador retrievers, which leads to increased food motivation and body weight (@stephenorahilly.bsky.social ). We can hypothesize that this variant leads to similar traits in humans as well.
October 16, 2025 at 6:54 PM
3/7 Highlight: a stop-gain POMC variant (p.Glu206*) that truncates β-MSH & β-endorphin. And it's surprisingly common: >1,700 heterozygous carriers in Estonia (~0.85% of Estonian Biobank participants); likely tens of thousands across N/E Europe.
October 16, 2025 at 6:54 PM
2/7 We used the youngest available adult BMI per person to amplify genetic signal (median age ~42, which is about 15–20 years younger than other similar biobank cohorts). Result: 214 genome-wide loci in EstBB, mostly neurological pathways, many known, plus some fresh ones.
October 16, 2025 at 6:54 PM
1/7 New BMI GWAS out! Using Estonian Biobank (n=204,747) and replication in FinnGen, we show that even in Europe you can still find region-specific biology if you zoom into population-tailored sumstats. Big thanks to co-author @kanwalbatool.bsky.social :)
October 16, 2025 at 6:54 PM