David John Porteous

The paper performs genome-wide association studies on 439 high-abundance serum proteins in 15,035 Scottish individuals, identifying 1,553 SNP signals and 13 putative causal protein-outcome associations.

The paper describes a large DNA methylation dataset from the Generation Scotland cohort, providing methylation profiles and associated phenotypes for research purposes.

The paper develops a method to analyze genomic deletions and duplications across the cerebral cortex and finds opposing effects on cognitive ability depending on gene expression patterns in different cortical regions.

The paper identifies 52 genome-wide associations for urinary metabolites and finds causal relationships between eGFR and 13 metabolites.

The paper identifies a CNV duplication associated with higher cognitive ability and shows gene-dosage effects differ between deletions and duplications across biological processes.

This study shows that rare CNVs and PRS-IQ increase ASD risk independently of their effects on cognitive ability, suggesting ASD risk and cognitive ability are distinct outcomes of these variants.

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.

The paper identifies parent-of-origin effects on the methylome linked to aging rates by analyzing CpG methylation in a large family cohort.

The paper identifies DNA methylation and proteomic markers associated with brain health through integrated methylome and phenome analyses.

This study evaluates how biological and statistical properties of CpGs affect epigenetic predictions for eighteen traits, showing that CpG methylation QTL status and beta-value distribution influence prediction accuracy.

The paper identifies KRAB-ZFP genes' influence on CpG-site methylation and links these methylation patterns to disease phenotypes like rheumatoid arthritis and HIV infection.

This study identifies DNA methylation predictors of cognitive function using blood samples, showing they explain variance in cognitive ability and associate with biological markers.

The paper develops epigenetic scores (EpiScores) for plasma proteins to predict disease risk, finding 137 associations with incident morbidities independent of known factors.

SNHap-RHM jointly maps common and rare genetic variation affecting complex traits by combining SNP and haplotype-based genomic relationship matrices, identifying significant genomic regions for height and MDD.

The paper identifies genetic and epigenetic factors influencing plasma protein levels linked to Alzheimer's disease, finding novel associations with TREM2 and TBCA.

This study identifies modifiable parent-of-origin effects on DNA methylation by analyzing genetic and environmental factors in a large cohort.

This study shows that loss of SORCS2 increases DNA double-strand breaks in neurons, linking it to neurodegenerative processes.

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

This study investigates the relationship between early life stressors and adult mental health through methylome-wide association studies, finding no evidence of methylome mediation but linking birth date to blood cell type composition.

This study uses genome-wide methylation data to assess the impact of smoking and gene-smoking interactions on obesity-related traits, showing improved variance explanation compared to traditional methods.

The paper uses symptom-based case predictions to conduct a GWAS on COVID-19, finding new genetic susceptibility insights and suggesting different genetic architectures for severity and susceptibility.

In 159,701 siblings from 17 cohorts, population GWAS overstate direct effects on height, education, smoking, cognition, depressive symptoms and age at first birth; clinical traits mostly agree across models.

This paper conducts a genome-wide association study of suicide death and shows polygenic scores predict suicide case-control status and related psychiatric traits.

This study identifies epigenome-wide DNA methylation differences between APOE ε4 and ε2 carriers in whole blood, implicating lipid-related genes.

This study shows that DNAm GrimAge predicts disease incidence and prevalence better than other epigenetic clocks in a large cohort.

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.

The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.

The DPUK Data Portal provides secure access to cohort data for dementia research, supporting multi-modal analyses and collaborations across multiple institutions.