A man and a woman are smiling.
#ScienceSnack Researchers at the UKB and the University of Bonn have now identified genetic and non-genetic factors that help the body fight the Epstein-Barr virus. EBV can cause certain types of cancer or autoimmune diseases. www.uni-bonn.de/en/news/030-...
Image: UKB / A. Stein
Finally, we highlight similar approaches undertaken by other groups (www.nature.com/articles/s41...; www.nature.com/articles/s41...; www.medrxiv.org/content/10.6...). Together, these illustrate the potential of population scale sequencing to create and study novel phenotypes. Exciting times ahead!
We are also grateful to many additional collaborators who helped with certain aspects of the analysis and/or supported us during the revision process, in particular @yuki-okada.bsky.social and his team💐! #teamscience
This was only possible thanks to an amazing team, spearheaded by @axel-schmidt.bsky.social and supported by @evabeins.bsky.social, @madhusankhat.bsky.social, @davifri.bsky.social, @leofrach.bsky.social, @boztugk.bsky.social, plus others not on BlueSky.
In this study we use genome sequencing data from large population cohorts to identify factors that contribute to the viral load of EBV long time after primary infection. For more details, please also see the accompanying press release by @unibonn.bsky.social: www.uni-bonn.de/en/news/030-...
🖨️ Hot off the press 🍾 :
I am super excited to share that our article on the host control of persistent EBV infection has just been published in Nature Magazine, in an accelerated article preview version:
rdcu.be/e4Lg8
Our paper on the newest version of the Registry of candidate cis-Regulatory Elements (cCREs) is out 🧬
Huge thanks to the many collaborators, experimentalists, analysts and software developers who made this work possible — truly a team effort!
A "meme-torial" of the science is coming soon 👀
Congratulations!! Exciting news and super well deserved! 🥳🥳🥳
I finally made (it on) my first cover 🤣 🥳!!
Congratulations to @hggadvances.bsky.social, and all my fellow co-editors, for establishing a great genomics journal. And to all authors: if your manuscript still needs a home, consider submitting with us. We would be delighted to handle your paper 🫶 💪.
Very exciting preprint by @axel-schmidt.bsky.social, @kuludwig.bsky.social and team!
Check out Kerstin's thread for overview
Thanks for reading till the end, and looking forward to hear your thoughts!
@unibonn.bsky.social, @immunosens.bsky.social, @juhumgen.bsky.social, #EBV, #autoimmunity, #immune
This project was a tremendous team effort - thanks to our collaborators who are on BlueSky @madhusankhat.bsky.social, @leofrach.bsky.social, @davifri.bsky.social, @boztugk.bsky.social, @evabeins.bsky.social, and those who are not.
We would like to highlight a parallel preprint from @caleblareau.bsky.social lab. Despite a different focus, and way of defining EBVread+, the results of the analyses that are shared (e.g. GWAS) are highly consistent.
www.biorxiv.org/content/10.1...
There is much more to explore in the paper - just give it a read! Our systematic exploration of host-EBV interaction during latency will help to better understand EBV-associated diseases, identify molecular drug targets and fuel the identification of novel IEIs.
Additional associations were found with Type 1 Diabetes (T1D), Inflammatory Bowel Disease (IBD) and hypothyroidism, some of which (RA & T1D) even got further support from Mendelian Randomization.
Aggregating the common variants into risk scores, we found that a genetically-predicted EBVread+ based on MHC-I HLA alleles was associated with higher risk of Multiple Sclerosis (driven by HLA-A*02:01), while that of MHC-II HLA alleles was associated with Rheumatoid Arthritis (RA).
Reassuringly, common variants were enriched in known genes underlying inborn errors of immunity (IEI).
Turning to genetics, a GWAS for EBVread+ in UKB identified striking associations at the MHC region, plus 27 loci outside of MHC, most of which were replicated in AoU. Genes at associated loci include ERAP2, CTLA4, CD70.
Exploring which non-genetic factors determine EBVread+, we found strong associations with HIV infection & immunosuppression. When affected individuals were excluded, additional contributors were current (but not former) smoking, male sex, age, GS yield and, interestingly, seasonal time of sampling.
We show, by simulations and additional analyses, that the individuals we capture as EBVread+ are those harboring large amounts of EBV-DNA, indicating insufficient EBV control
We detected EBVreads in 16.2% of 486,315 UKB participants, and this measure (=EBVread+) showed a high specificity when compared to serology data that is available of a subset of individuals. Similar read distributions were obtained in the analysis of 336,123 blood-based GS in All of Us (AoU).
EBV persists lifelong in B cells - allowing it to be captured as part of genome sequencing (GS) of human blood. Such reads are usually discarded, but we extracted them for all individuals of UK Biobank (UKB). During extensive QC, we identified and removed ca. 50 library plates contaminated with EBV
EBV is a DNA-virus of major relevance to human health - it is associated with several autoimmune diseases and cancers. Ca. 95% of the adult population has been infected with EBV, mostly without any symptoms, which makes it hard to be studied by serology.
🔔Paper alert! Extremely excited to share a preprint from our lab! Spearheaded by @axel-schmidt.bsky.social, a super talented medical & computational geneticist, we studied latent Epstein-Barr virus (EBV) infection at population-scale.
Interested in how this works & what we found? Read along! 👇
🚨 Most variant screens measure growth or abundance. What do they miss? That variants impact a spectrum of protein and cellular phenotypes. Variant in situ sequencing (VIS-seq) finds what’s missing: image cells 🔬 first, decode later, revealing multi-scale phenotypes for thousands of variants.👇
1/9
🚀 Thrilled to share our new review on how structural variants reshape 3D genome architecture and cause disease! 🧬🔀
Out now in Nature Reviews Genetics: www.nature.com/articles/s41...
#3D-Genome #StructuralVariants #uksh
So exciting - congratulations!!! 💐🎊👍
Congratulations, this sounds awesome! Looking forward to get this data presented live when you visit us in Bonn forward our Summer School 🎊🤣 @immunosens.bsky.social
Justified standing ovation for Nobel laureate Katalin Karikó at #ESHG2025
She shared her adventurous scientific life and life lessons like "If you want to do something, you find a way. If not, you find excuses", and reminded us scientists to thank our near and dear because "they suffer a little bit"
