Konstantinos Hatzikotoulas

Associations of Combined Genetic and Lifestyle Risks with Incident Type 2 Diabetes in the UK Biobank

This study examines how genetic and lifestyle factors together influence the risk of developing type 2 diabetes in the UK Biobank population.

Mendelian randomization suggests a causal link between glycemic traits and thoracic aortic structures and diseases

This study uses Mendelian randomization to show that higher glycemic traits are inversely associated with thoracic aortic diameters and reduced risk of aneurysm and dissection.

Multi-omics characterization of type 2 diabetes associated genetic variation.

This study integrates multi-omics data to identify genetic variants and molecular mechanisms associated with type 2 diabetes and highlights potential drug targets.

Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications

This study identifies 1,289 genetic signals for type 2 diabetes in 2.5 million individuals, revealing distinct clusters linked to vascular complications and highlighting ancestry-specific genetic risk factors.

A community driven GWAS summary statistics standard

The paper defines a standard format for GWAS summary statistics to improve data sharing and analysis.

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.

Osteocyte Transcriptome Mapping Identifies a Molecular Landscape Controlling Skeletal Homeostasis and Susceptibility to Skeletal Disease

The paper maps the osteocyte transcriptome in mice, identifies 1239 genes, and links them to skeletal disease susceptibility in humans.

Genetic Identification of Cell Types Underlying Brain Complex Traits Yields Novel Insights Into the Etiology of Parkinson's Disease

This study identifies cell types associated with brain complex traits using GWAS and single-cell transcriptomics, revealing novel roles for oligodendrocytes in Parkinson's disease.

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

The paper estimates genetic correlations between eating disorder and substance-use-related phenotypes using GWAS data, finding both positive and negative associations.

Genome-wide association and functional analyses identify CASC20 and KIF26B as target loci in heterotopic ossification

This study identifies CASC20 and KIF26B as genetic loci associated with heterotopic ossification through genome-wide association and functional analyses.

Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank

This study identifies 64 new genetic signals for osteoarthritis using UK Biobank data, including 52 novel loci, and highlights potential therapeutic targets with existing drugs.

Very low depth whole genome sequencing in complex trait association studies

This study evaluates very low depth whole genome sequencing for complex trait association studies, showing it can efficiently discover association signals comparable to imputed GWAS chip designs.

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

The paper performs deep whole genome sequencing on 1,457 individuals to investigate rare variant contributions to cardiometabolic traits, identifying new regulatory variants and gene-trait associations.

The genetic architecture of osteoarthritis: insights from UK Biobank

This study identifies 9 new osteoarthritis loci using UK Biobank data and finds causal effects of higher body mass index on osteoarthritis.

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

This paper uses transcriptomic imputation to identify gene-tissue associations linked to Anorexia Nervosa risk, finding significant links in both brain and metabolic tissues.

The Genetic Epidemiology of Developmental Dysplasia of the Hip: A Genome-Wide Association Study Harnessing National Clinical Audit Data

This paper conducts a genome-wide association study on developmental dysplasia of the hip using national clinical audit data, identifying genetic loci associated with the condition and demonstrating a scalable recruitment strategy.