Jaakko Tuomilehto

The paper maps cell type-specific genetic effects on nucleosome-free regions and nucleosome occupancy using snATAC-seq data from human muscle biopsies, showing causal relationships between these elements and GWAS traits.

The paper identifies age-associated changes in the skeletal muscle epigenome and transcriptome, revealing shifts in chromatin accessibility and gene expression linked to metabolic and senescence pathways.

The paper identifies dysregulated pathways and candidate driver genes in skeletal muscle from individuals with type 2 diabetes using co-expression networks and single-nucleus RNA-seq data.

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

The paper performs population-scale single-nucleus multi-omic profiling of skeletal muscle to identify genetic regulation across cell types and traits.

The paper identifies additional eQTL signals in adipose tissue and shows they contribute to cardiometabolic traits through gene dosage effects.

The paper introduces Islet Gene View (IGW), a platform that integrates gene expression and phenotypic data from pancreatic islets to explore T2D-related gene expression changes and their functional implications.

This paper uses Mendelian randomization to find that low birth weight and high adult BMI are causally linked to latent autoimmune diabetes in adults, with BMI having a stronger effect than birth weight.

The paper examines the association between adipose tissue ACE2 expression and cardio-metabolic risk factors, finding lower ACE2 levels linked to T2D, obesity, and inflammation-related cell type changes.

This study evaluates the impact of communicating polygenic and clinical risk scores for ASCVD via a web tool, finding that high-risk individuals made more health behavior changes.

This study uses genetic data to examine testosterone's effects on health, finding sex-specific impacts on female reproductive health and complex associations with disease risk.

This study performs a GWAS on random glucose measurements in 493,036 individuals, identifying 128 loci associated with glycaemic traits and providing insights into diabetes biology and treatment.

This study identifies five genetic loci associated with obstructive sleep apnoea and finds a causal link between BMI and OSA through polygenic risk scores and Mendelian randomization.

The paper shows that a loss-of-function variant in ZnT8 improves insulin secretion and protects against type 2 diabetes by enhancing glucose responsiveness and proinsulin conversion.

The paper identifies genetic-environment interactions in skeletal muscle gene expression using allele-specific expression and clinical traits as environmental proxies.

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.

This study identifies heterozygous RFX6 protein truncating variants as a cause of MODY with reduced penetrance, using genetic analysis and cohort comparisons.