Erik Abner

@FoGenomics Doesn’t happen every day that your name is on three posters side by side and Darth Vader shows up too. Festival of Genomics 2026 is fun :) #FOG2026

@doctorveera Really cool paper! There’s also a BMI-lowering MC4R missense variant (doi.org/10.1038/s41467…), but it doesn’t show a mirror-image lipid pattern (nmrmeta.gi.ut.ee/variant/18:603…). Maybe this kind of metabolic compensation only kicks in when MC4R signaling is disrupted, not enhanced...

Enjoyed reading this recent work by Farooqi, Collet and colleagues in Nature Medicine on the paradoxical reduction in cardiovascular risk in MC4R deficiency. Obesity is a major risk factor for cardiovascular disease. So, you'd expect individuals with MC4R deficiency, who often are morbidly obese, to get cardiovascular diseases more often. But it wasn't the case. In fact, it's the opposite. For a given BMI, MC4R deficient individuals seem to have better metabolic profile (lower LDL and total cholesterol) and lower cardiovascular risk compared to non-carriers. Why so? MC4R signaling is a key pathway in the brain that controls feeding behavior of humans. And this signaling sets the autonomic tone for metabolic adaptations in the periphery (gut, liver etc.). In individuals with MC4R mutations, the impaired melanocortin signaling tricks the brain in to thinking the body is in the fasting state. This impaired signaling drives increased feeding behavior (due to lack of satiety signal ) But this glitch in the brain also triggers metabolic adaptations resembling chronic caloric restriction: - Enhanced LDL clearance from circulation - Lower blood pressure (reduced sympathetic tone) - Efficient triglyceride clearance and preferential adipose storage - Reduced circulating lipids despite obesity The brain's (mis)perception of nutritional state overrides the actual peripheral metabolic state, creating a paradoxically protective lipid profile despite severe obesity. This highlights the brain as a master regulator of peripheral metabolism and reminds us that we've got so much left to learn how to fine tune the brain to treat obesity and its complications! Zorn et al. Nat Med 2025 nature.com/articles/s4159…

Take-home: even in well-studied European populations, there’s hidden biology waiting to be found. Using population-specific imputation panels lets you see uncommon and rare variants that global panels often miss. doi.org/10.1038/s41467… #GWAS #genetics #obesity

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!

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 @HannaMOllila & FinnGen friends!

We are looking for a PhD student!🧬 📊 Research project: Genetic basis of host susceptibility to respiratory viruses and chronic respiratory diseases 📍 Institute of Genomics, University of Tartu 📩 Application period: 1st–15th May 2025 Read more: lnkd.in/drUr_A38

We're hiring a #Postdoc in Population/Statistical Genetics. Work on improving PRS transferability + risk prediction in mixed ancestry. 📅 Term: 01.09.2025–30.09.2027 📍 In collab w/ @helsinkiuni & Estonian Biobank 🧬 Apply by April 30. tinyurl.com/57f36e3u

Excited to share our recently published overview of the @ESTbiobank 🧬 We highlight the unique features of the biobank and the conducted scientific research, including the many recall studies that have been carried out over the years: nature.com/articles/s4146…

We're accepting applications for fully-funded PhD student. International applicants are welcome to apply! Application is open now, closes 10 Jan 2025!

We're really proud to have contributed to this awesome work with @ESTbiobank data! Congrats to the lead authors!

1/6 🚨 Thrilled to share our new preprint on the genetics of dermatophytosis susceptibility on @medrxivpreprint! 🚨 With over 250K cases and 1.37M controls across 4 cohorts, we uncover 30 loci that affect risk for this fungal infection affecting 20% of the global population. 🌍

Tšempionid olete! :)

My new pop-science book on Estonian fossils is almost out! I wanna give out a sincere thanks to all the people, who helped me get it done :) Pre-sale discount available for 1 week! Book itself launches in about ~2 weeks: argokirjastus.ee/toode/eesti-ki… PS! Book is only in Estonian!

Just helped create the stunning Ryoji Ikeda exhibition in Tartu! Visitors can dive into the hypnotic fusion of science and art, with genetic data from the Estonian population and our institute's data reimagined through LED screens and mirrors 🧬 #RyojiIkeda #ERM #Tartu2024

I won't be attending #ASHG24 this year, but do check out this cool talk from @jcbarret @NgaleHealth that also contains some results from our two most recent preprints.

@doctorveera Thanks for the summary! PS! The Nightingale sumstats are available on GWAS catalog ftp and can also be seen here: nmrmeta.gi.ut.ee/phenotypes ;)

ASHG 2024 🧬highlights🧬 Unfortunately, I couldn't attend ASHG this year. But I did browse through the abstracts to learn about all the exciting science being presented this year, which I've summarized in GWAS Stories. The range of topics is as always exhaustively broad. I was able to cover only a fraction of them. Hope you find this list helpful. Happy #ASHG24 ! gwasstories.com/p/ashg-2024-hi…