rjhfmstr.bsky.social
Postdoc with Z.Kutalik | visiting fellow with Lili Milani | Statistical modelling of haplotypes - parent of origin | skier, climber, windsurfer
10 posts
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59 following
Getting Started
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Special thanks to Stefan, Marc, and Roya !
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🙏 Huge thanks to all our co-authors, funders, and biobanks participants who made this work possible: @zkutalik @ODelaneau @MilaniLili @CavinatoTheo @simrubk@A_van_der_graaf @FannyDhelia @NeleTaba Jaanika Kronberg and Reedik Magi @uk_biobank @ESTbiobank @dbc_unil @genomicstartu
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📊 More Key Findings! (2/2)
* the first POEs at protein QTLs spanning known imprinted genes (DLK1, CPA4) and genes suspected of incomplete imprinting (PER3, ADAM23).
* >70% of POEs replicated in the Estonian Biobank!
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📊 More Key Findings! (1/2)
* distinct maternal vs paternal contributions to trait variability for key traits related to resource allocation, such as IGF-1, triglycerides, and birth weight.
* the first sex-specific POE: a bi-polar POE on glucose observed exclusively in men!
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🧬 Mechanisms behind bi-polar POEs:
Some bi-polar effects (opposite paternal vs maternal effects) involve lead variants eQTLs for both maternally (e.g. KLF14) and paternally expressed genes (e.g. MEST), offering a first glimpse into their intriguing genetic mechanism.
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💡 Highlights ! (2/2)
These findings support the parental conflict hypothesis: paternal alleles boost offspring growth, while maternal alleles conserve resources for future reproduction, resulting in opposing parental genetic influences on resource allocation traits.
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💡 Highlights ! (1/2)
* We identified 30+ novel POEs across >60 traits and >2,400 proteins.
* bi-polar POEs, where maternal and paternal alleles exert conflicting effects, were highly prevalent.
* Traits tied to resource allocation (growth, metabolism, …) were particularly enriched.
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🔬 How did we infer the parent-of-origin of alleles?
We developed a multi-step method leveraging:
IBD sharing with close relatives.
Chromosome X and mtDNA data for parental sides.
Crossover inference in siblings.
👉 Allowed us to assign parent-of-origin for ~221,000 individuals!