André Gerardus Uitterlinden

The genetic architecture of trabecular bone score and association with fracture: a genome-wide association and meta-analysis

This study identifies 33 genetic variants associated with trabecular bone score (TBS) and finds a potential causal link between TBS and fracture risk independent of bone mineral density.

A comprehensive quality control pipeline in human microbiome research for large population studies

This paper develops a quality control pipeline for human microbiome research in large population studies to improve data reliability and address standardization challenges.

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.

Computing Linkage Disequilibrium Aware Genome Embeddings using Autoencoders

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

Multi-ancestry genome-wide association study improves resolution of genes, pathways and pleiotropy for lung function and chronic obstructive pulmonary disease

This study performs a multi-ancestry GWAS on lung function and COPD, identifying 559 genes and 29 pathways, and showing genetic risk scores are associated with COPD across ancestries.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

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.

Genome Wide Association Metanalysis Of Skull Bone Mineral Density Identifies Loci Relevant For Osteoporosis And Craniosynostosis

This study identifies 59 genome-wide significant loci for skull bone mineral density, including four novel loci, and links them to osteoporosis and craniofacial developmental defects.

Impact of SNP microarray analysis of compromised DNA on kinship classification success in the context of investigative genetic genealogy

This study evaluates how compromised DNA affects kinship classification success using SNP microarray data in investigative genetic genealogy.

Genetic Association Study of Childhood Aggression across raters, instruments and age

This study conducts a genome-wide association meta-analysis of childhood aggression across multiple raters, instruments, and ages, identifying genetic correlations with various traits but no genome-wide significant SNPs.

Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants

Epigenome-wide association meta-analysis of DNA methylation with coffee and tea consumption

This study identifies DNA methylation sites associated with coffee and tea consumption using EWAS, finding potential links to fatty liver disease through PHGDH expression.

Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification

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.

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.

Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

This study identifies 15 genetic loci associated with muscle weakness in older adults through a large meta-analysis, revealing new pathways linked to aging and health outcomes.

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.

Large-scale association analyses identify host factors influencing human gut microbiome composition

The paper identifies 31 host genetic loci influencing gut microbiome composition through GWAS and suggests causal effects in inflammatory diseases.

Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

This study identifies new genetic loci associated with myocardial infarction and coronary heart disease using genome-wide association analyses across multiple cohorts.

Genome-wide association study identifies 48 common genetic variants associated with handedness.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

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.

Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

This study identifies 137 genome-wide significant loci associated with DNA methylation biomarkers of ageing using DNAm and SNP data from over 41,000 individuals.

Genomic analysis of diet composition finds novel loci and associations with health and lifestyle

This study identifies genetic loci associated with macronutrient intake and links them to health outcomes using GWAS in over 235,000 individuals.

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

Novel genetic loci affecting facial shape variation in humans

This study identifies 24 genetic loci associated with facial shape variation in humans through GWAS and confirms 13 of them in a multi-ethnic cohort.

Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium

The paper identifies 161 genome-wide significant genetic associations for cortical structure traits across 34 brain regions, highlighting key biological pathways and gene functions.

KCND3 is a novel susceptibility locus for early repolarization

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.

Novel DNA methylation sites of glucose and insulin homeostasis: an integrative cross-omics analysis

This study identifies nine novel DNA methylation sites associated with fasting glucose and insulin levels by integrating cross-omics data from multiple cohorts.

Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

This paper evaluates the causal effect of fibrinogen on coronary heart disease using Mendelian randomization, finding a small effect with multi-variant methods but not with single variant approaches.