Sami Heikkinen

Gene-by-Sleep Duration Interaction for Glycemic Traits in over 480,000 Individuals

The paper identifies 16 genetic loci interacting with sleep duration to influence glycemic traits in over 480,000 individuals, revealing distinct biological mechanisms for short and long sleep.

Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals

This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

Frontotemporal dementia patient-derived iPSC neurons show cell pathological hallmarks and evidence for synaptic dysfunction and DNA damage

This study shows that iPSC-derived neurons from FTD patients exhibit synaptic dysfunction, DNA damage, and C9-HRE-related pathologies, supporting synaptic dysfunction as a key factor in FTD.

The protective PLCG2 variants delay Alzheimer's disease onset age in APOE ϵ4 carriers

The paper examines how protective PLCG2 variants delay Alzheimer's onset in APOE ε4 carriers and identifies associated plasma biomarkers.

Transcription factor occupancy is affected by genetic variation in the white adipose tissue of C57BL6/j and 129S1/SvImJ mice

The paper investigates how genetic variation in two mouse strains affects chromatin accessibility and TF binding in adipose tissue, linking these changes to gene regulation and disease susceptibility.

APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

A Large-Scale Genome-Wide Study of Gene-Sleep Duration Interactions for Blood Pressure in 811,405 Individuals from Diverse Populations

This study identifies 22 novel gene-sleep duration interaction loci for blood pressure traits across 811,405 individuals, highlighting distinct genetic influences of short and long sleep on cardiovascular health.

Protective variant in PLCgamma2 mitigates Alzheimer's disease associated pathology via enhancing beneficial microglia functions

This study shows that the PLCgamma2-P522R variant reduces beta-amyloid pathology and enhances microglial function in AD models, suggesting an anti-ageing mechanism.

A Large-Scale Genome-Wide Gene-Sleep Interaction Study in 732,564 Participants Identifies Lipid Loci Explaining Sleep-Associated Lipid Disturbances

This study identifies 17 genetic loci associated with sleep duration and lipid levels, offering potential druggable targets for dyslipidemia in individuals with sleep disturbances.

C9orf72 repeat expansion-carrying iPSC-microglia from FTD patients show increased phagocytic activity concomitantly with decreased number of autophagosomal-lysosomal vesicles

This study shows that C9orf72 repeat expansion in iPSC-derived microglia from FTD patients leads to increased phagocytic activity and reduced autophagosomal-lysosomal vesicles.

Fibroblasts carrying intermediate C9orf72 hexanucleotide repeat expansions from iNPH patients show impaired energy metabolism but no cell pathologies

Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks

This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

A FinnGen pilot clinical recall study for Alzheimer's disease

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

The paper identifies novel genetic loci associated with blood pressure that interact with sleep duration across multiple ancestries.

Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile

The paper identifies 49 novel blood lipid loci associated with gene-sleep interactions in 126,926 individuals across 5 ancestry groups, with gene-short-sleep interactions explaining 4.25% of triglyceride variance.