Last autumn FinnGen hit its target of sampling close to 10% of the Finnish population with more than 500,000 participants. We are happy to announce that the results based on the full cohort are now publicly available for the whole research community:
https://t.co/c6lTge4h4t
Sex chromosome trisomies - including 47,XXY, 47,XYY, and 47,XXX - are the most common type of chromosome abnormalities in humans.
Yet, our understanding of the prevalence and associated health outcomes is primarily driven by observational studies of clinically diagnosed cases. This results in a disproportionate focus on 47,XXY (Klinefelter syndrome) and the associated hormone-related conditions.
We identified 2,769 trisomy carriers (0.19%) from three large cohorts (FinnGen, MVP, UK biobank).
Interestingly, many identified phenotype associations are shared among trisomy subtypes. We are now designing follow-up analyses to better understand the mechanism!
Looking for weekend reading? I’m excited to share latest work from the group, a tour de force effort by the fantastic graduate student Yu Fu on the impact of chrX and dosage compensation on complex traits:
https://t.co/uRDbluMI80
FinnGen team wishes you a peaceful holiday season!
As we reflect on the progress made this year, we are grateful to every participant and collaborator who has contributed to our genetic research journey.
We look forward to making more exciting discoveries together in 2025!
Suulakihalkioiden esiintyvyys Suomessa on yli kaksinkertainen Euroopan keskiarvoon verrattuna. Uudet FinnGen-aineistoon perustuvat tulokset, erityisesti IRF6-geenin säätelyalueelta tunnistettu variantti, auttavat selittämään tätä ilmiötä. @HelsinkiUniMed https://t.co/KnvKyf0JPT
Thanks to the teams and participants in these three great studies! Please note, this is a work in progress and will be expanded and updated - more details and links for feedback available at:
https://t.co/mraYtkAZJY
Million Veteran Program & FinnGen teams are pleased to release v1 meta-analysis of MVP, FinnGen and UKBB GWAS data. This first version includes ~300 binary disease definitions across >1.5 M individuals. Browse scans at:
https://t.co/uXf5QBFrCs
We are delighted to welcome @Bayer as our newest pharmaceutical industry partner!
Their expertise in the Nordic healthcare ecosystem and commitment to advancing pharmaceutical R&D in Finland will further strengthen FinnGen’s scientific mission.
Read more: https://t.co/quCSmRMQW0
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. 🌍
Are you passionate about software development and eager to make a meaningful impact in healthcare? Join our team at FinnGen, one of the largest genetics research projects globally!
Location: Helsinki, Finland @FIMM_UH@helsinkiuni
Apply by 16 Dec here⬇️:
https://t.co/yyCHhBb5Hg
A FinnGen-based study led by researchers @FIMM_UH has discovered a genetic defect in the TBPL2 gene that affects the maturation of oocytes, leading to infertility in women who have inherited the non-functional form of the gene from both parents.
https://t.co/oBfzF7KhGj
Uusi naisten tahattomaan lapsettomuuteen liittyvä geenivirhe tunnistettiin Suomessa FinnGen-aineiston avulla. Kyseinen TBPL2-geenivirhe vaikuttaa munasolujen kypsymiseen ja johtaa näin naisten hedelmättömyyteen, jos sen on perinyt molemmilta vanhemmilta:
https://t.co/IMRhhXHnZ5
New FinnGen-based findings from @UniOulu:
Researchers discovered dozens of new genes associated with disc herniations, many of which relate to the nervous system and nerve function. The results from Johannes Kettunen's group were published in @natcomms:
https://t.co/NE6eRpnoQZ
FinnGen-tuloksia @UniOulu:n tutkijoilta:
Tutkimuksessa havaittiin lukuisia välilevyjen rakenteeseen ja tulehdustekijöihin mahdollisesti vaikuttavia geenialueita sekä aiemmin tuntemattomia yhteyksiä hermostoon ja hermojen toimintaan liittyviin geeneihin.
https://t.co/73uTGXZuTG
Board 5131F: Novel Chromosome 2 locus associated with post-traumatic osteoarthritis of the knee in 47,396 cases and comparators
Presenter: Merry-Lynn McDonald @lab_mcdonald
Board 4117F: Population-enriched germline variants in Finns pinpoint shared mechanisms shaping hematopoietic mosaic chromosomal alterations and diverse solid tumors
Presenter: Aoxing Liu (@Aoxing2)