Doesnβt happen every day that your name is on three posters side by side and Darth Vader shows up too.
Festival of Genomics 2026 in London is fun :) #FOG2026
@genomicsdoge.bsky.social
Doesnβt happen every day that your name is on three posters side by side and Darth Vader shows up too.
Festival of Genomics 2026 in London is fun :) #FOG2026
Fantastic work, really interesting to see MC4R extend its role beyond apptetite. Weβve also found surprisingly frequent POMC risk and MC4R protective variants in the Estonian population; Weβll check if retrospective semaglutide data from the Estonian Biobank align with the tirzepatide findings :)
24.10.2025 13:45 β π 0 π 0 π¬ 0 π 07/7 Take-home: even in well-studied European populations, thereβs hidden biology waiting to be found. Using population-specific imputation panels lets you see uncommon and rare variants that global panels often miss.
rdcu.be/eJ0ge #GWAS #genetics #obesity @natcomms.nature.com
6/7 Also also: an intronic protective ADGRL3 variant, located near CTCF sites. ADGRL3 gene is better known for its role in neurodevelopment and ADHD and is for first time linked to BMI; it has intriguing possibly has ties to incretin biology (GIP). Worth a deeper functional look!
16.10.2025 18:54 β π 0 π 0 π¬ 1 π 05/7 We also found a few noteworthy novel protective coding hits: PTPRT:p.Arg1384His associates with lower BMI and points to the leptinβmelanocortin axis. As phosphatases are considered druggable, this could be a potential anti-obesity target to explore.
16.10.2025 18:54 β π 1 π 0 π¬ 1 π 04/7 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.
16.10.2025 18:54 β π 2 π 0 π¬ 1 π 03/7 Highlight: a stop-gain POMC variant (p.Glu206*) that truncates Ξ²-MSH & Ξ²-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.
16.10.2025 18:54 β π 1 π 0 π¬ 1 π 02/7 We used the youngest available adult BMI per person to amplify genetic signal (median age ~42, which is about 15β20 years younger than other similar biobank cohorts). Result: 214 genome-wide loci in EstBB, mostly neurological pathways, many known, plus some fresh ones.
16.10.2025 18:54 β π 1 π 0 π¬ 1 π 01/7 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 :)
16.10.2025 18:54 β π 17 π 9 π¬ 1 π 1Ega jΓ΅ua ka kΓ΅ike kΓ΅ikjal ja korraga :)
16.10.2025 13:23 β π 2 π 0 π¬ 0 π 0Excited to share our recently published overview of the @estbiobank.bsky.social π§¬
We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years!
www.nature.com/articles/s41...