P. Eline Slagboom

Rare genetic variants in the IIS/mTOR signalling pathway identified in exceptionally long-lived individuals show shared in vitro effects associated with lifespan across species

This study identifies rare genetic variants in the IIS/mTOR pathway in long-lived humans and shows they have shared functional effects on lifespan-related traits in mice.

Trans-eQTLs reveal the architecture of human gene regulatory networks

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

Rare longevity-associated variants, including a reduced-function mutation in cGAS, identified in multigenerational long-lived families

The paper identifies rare longevity-associated variants, including a cGAS mutation, in long-lived families and shows they reduce inflammation and delay cellular senescence.

DNA methylation and gene expression trajectories of human postprandial metabolism

The paper identifies DNA methylation and gene expression changes in human blood after a meal, linking them to cardiometabolic health and obesity-related genes.

A combined lifestyle intervention induces a sensitization of the blood transcriptomic response to a nutrient challenge

This study examines how a lifestyle intervention affects the blood transcriptomic and metabolomic responses to a nutrient challenge in elderly individuals.

Phenotype prediction using biologically interpretable neural networks on multi-cohort multi-omics data

The paper develops interpretable neural networks for multi-omics data to predict smoking status, age, and LDL levels, showing improved performance and generalizability across cohorts.

The AccelerAge framework: A new statistical approach to predict biological age based on time-to-event data

The paper introduces the AccelerAge framework, a statistical method for predicting biological age using time-to-event data, and evaluates it against existing predictors.

Clarifying the biological and statistical assumptions of cross-sectional biological age predictors

This paper examines the assumptions of cross-sectional biological age predictors and shows that a key assumption is untestable and can lead to unreliable results.

Functional characterisation of rare variants in genes encoding the MAPK/ERK signalling pathway identified in long-lived Leiden Longevity Study participants

The paper identifies two rare variants in the MAPK/ERK pathway from long-lived families and shows they affect signaling and metabolism differently in mouse embryonic stem cells.

OTTERS: A powerful TWAS framework leveraging summary-level reference data

OTTERS is a TWAS framework that uses summary-level eQTL reference data to estimate eQTL weights and perform omnibus TWAS, showing improved power and applicability.

Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways

This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.

Increasing number of long-lived ancestors associates with up to a decade of healthspan extension and a healthy metabolomic profile in mid-life

This study shows that having more long-lived ancestors is linked to longer healthspan and better mid-life metabolomic profiles in families.

Metabolic predictors of phenotypic traits can replace and complement measured clinical variables in transcriptome-wide association studies

This study evaluates metabolic predictors as alternatives to clinical variables in TWAS, finding they yield similar results and can complement incomplete phenotypic data.

Using multivariable Mendelian randomization to estimate the causal effect of bone mineral density on osteoarthritis risk, independent of body mass index

This study uses multivariable Mendelian randomization to show that higher bone mineral density causally increases osteoarthritis risk independently of body mass index.

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

The paper uses blood eQTL meta-analysis to explore the polygenic architecture of complex traits, finding that trans-eQTLs are more informative for identifying causal genes than cis-eQTLs.

Correction for both common and rare cell types in blood is important to identify genes that correlate with age

The paper compares two models for correcting cell type composition in blood gene expression data, finding that accounting for more cell types reduces the number of age-associated genes and highlights platelet-related pathways.

Genome-wide identification of genes regulating DNA methylation using genetic anchors for causal inference

The paper identifies 818 genes influencing DNA methylation in blood using genetic anchors and causal inference, revealing both transcription factors and non-DNA-binding proteins with regulatory roles.

Systematic evaluation of normalization methods for glycomics data based on performance of network inference

The paper evaluates normalization methods for glycomics data by assessing how well they enable accurate reconstruction of known glycosylation pathway reactions using Gaussian Graphical Models.

Intergenerational transmission of longevity is not affected by other familial factors: Evidence from 16,905 Dutch families from Zeeland, 1812-1962

The paper examines whether the survival advantage of offspring from long-lived parents is genetic or environmental, finding a genetic component that persists beyond age 5.

Longevity Relatives Count score defines heritable longevity carriers and suggest case improvement in genetic studies

The paper identifies heritable longevity carriers using a family score and shows that longevity is transmitted across generations when at least 20% of relatives are long-lived.

Lifestyle-intervention-induced reduction of abdominal fat is reflected by a decreased circulating glycerol level and an increased HDL diameter

This study shows that lifestyle interventions reducing abdominal fat are linked to lower circulating glycerol and higher HDL diameter, independent of BMI or overall weight loss.

The genomic architecture of blood metabolites based on a decade of genome-wide analyses

This study estimates heritability and genetic contributions to metabolite levels using genome-wide data and twin-family cohorts, revealing class-specific genetic influences.

Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.

Longevity defined as top 10% survivors is transmitted as a quantitative genetic trait: results from large three-generation datasets

The paper shows that longevity as top 10% survivors is a quantitative genetic trait, with a 31% survival advantage in families with long-lived relatives.

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

Genome-wide identification of directed gene networks using large-scale population genomics data

The paper identifies 49 gene drivers of downstream transcriptional changes using population genomics data and RNA-sequencing from 3,072 individuals.

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

Controlling bias and inflation in epigenome- and transcriptome-wide association studies using the empirical null distribution

This paper develops a method to control bias and inflation in epigenome- and transcriptome-wide association studies using an empirical null distribution estimated via Bayesian statistics, showing improved power and false positive rate control.