Tim D. Spector

A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins

This study identifies 16 new genetic loci associated with plasma N-glycosylation in 10,000 individuals and links them to liver disease and inflammatory proteins.

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.

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.

Mapping of the gene network that regulates glycan clock of ageing

The paper identifies 16 genomic loci associated with IgG galactosylation through GWAS and validates three genes using CRISPR/dCas9 in an in vitro system.

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.

Extending and improving metagenomic taxonomic profiling with uncharacterized species with MetaPhlAn 4

Marker genes for 26,970 species-level genome bins, 4,992 defined only by metagenome-assembled genomes, let MetaPhlAn 4 quantify uncharacterized species and beat MetaPhlAn 3, mOTUs and Bracken on synthetic benchmarks.

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.

The Genomic Loci of Specific Human tRNA Genes Exhibit Ageing-Related DNA Hypermethylation

The paper identifies age-related DNA hypermethylation at specific human tRNA gene loci using DNA methylome data from peripheral blood.

Antiviral Antibody Epitope Selection is a Heritable Trait

The paper identifies heritable antibody epitopes and genetic loci associated with EBV immune responses and viral load control using twin and SNP-genotyped data.

Within-sibship GWAS improve estimates of direct genetic effects

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.

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.

Self-reported symptoms of covid-19 including symptoms most predictive of SARS-CoV-2 infection, are heritable

The paper identifies heritable symptoms of SARS-CoV-2 infection using twin studies of self-reported symptoms from the TwinsUK cohort.

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.

SNPs associated with HHIP expression have differential effects on lung function in males and females

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

Introducing ExHiBITT - Exploring Host microbiome inTeractions in Twins-, a colon multiomic cohort study

The paper introduces ExHiBITT, a colon multiomic cohort study of twins, describing its characteristics and initial findings on polyps, diverticulosis, and their associations with BMI and age.

Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels

This study identifies 11 genetic loci associated with salivary metabolites in 1,419 individuals, revealing novel saliva-specific associations and potential clinical applications.

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.

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

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.

Defining the genetic control of human blood plasma N-glycome using genome-wide association study

This study identifies twelve genetic loci associated with human blood plasma N-glycome composition through genome-wide association analysis, revealing both direct and indirect genetic influences on glycosylation.

Epigenetic findings in periodontitis in UK twins: a cross sectional study

This study identifies DNA methylation changes in blood and tissue samples associated with periodontal disease in older female twins.

Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.

Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.

Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health

This study identifies smoking-associated DNA methylation and gene expression changes in adipose tissue and links some to cardio-metabolic health outcomes.

Profound perturbation of the human metabolome by obesity

This study identifies metabolic and genetic signatures of obesity using metabolome analysis and whole genome sequencing in twin and volunteer cohorts, revealing clinically meaningful heterogeneity.

Unsupervised integration of multimodal dataset identifies novel signatures of health and disease

The paper integrates multimodal health data to identify novel biomarker signatures for health and disease, showing better predictive power for diabetes and hypertension than traditional biomarkers.