Lorraine Southam

TRIDENT: a framework for robust multi-trait GWAS identifies 66 novel multi-trait osteoarthritis signals

TRIDENT is a framework for robust multi-trait GWAS that identifies 66 novel osteoarthritis signals by combining earlier and larger GWAS meta-analyses and applying translational annotation.

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.

Transcriptome analysis in osteoarthritis primary tissues identifies high-confidence effector genes

The paper identifies 38 high-confidence effector genes in osteoarthritis using molecular and functional genomics evidence from transcriptome analysis of primary tissues.

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.

Hip joint space width is causally related to hip osteoarthritis risk via distinct protective and susceptibility mechanisms: findings from a genome-wide association study meta-analysis

This study identifies genetic determinants of hip joint space width and finds they have opposing causal effects on hip osteoarthritis risk through distinct mechanisms.

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.

Accelerating functional gene discovery in osteoarthritis

The paper identifies 14 genes involved in osteoarthritis using mutant mice and validates their role through functional studies and genome editing.

Whole genome sequencing analysis of the cardiometabolic proteome

The paper uses whole-genome sequencing to analyze the genetic architecture of 257 cardiometabolic protein biomarkers, identifying 131 sequence variant associations and constructing polygenic scores that explain up to 45% of protein variation.

Decoding the genomic basis of osteoarthritis

This study identifies molecular subgroups of osteoarthritis and develops a 7-gene classifier to stratify patients, while uncovering potential therapeutic compounds.

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.

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.

The transferability of lipid loci across African, Asian and European cohorts

This study assesses the transferability of lipid loci across African, Asian, and European populations, finding high consistency but also population-specific variations.

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.