Jonathan H. Tobias

Dissecting the genetic architecture of knee alignment reveals its contribution to osteoarthritis risk

This study identifies 20 genetic loci associated with knee alignment and shows genetic correlation with knee osteoarthritis, suggesting osteoarthritis may causally influence alignment.

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.

Genome-wide association study of DXA-derived hip morphology identifies associations with 4 loci in Chinese populations

This study identifies four genetic loci associated with hip morphology in Chinese populations through GWAS, with two loci previously linked to musculoskeletal development and two being novel findings.

Lowering of circulating sclerostin may increase risk of atherosclerosis and its risk factors: evidence from a genome-wide association meta-analysis followed by Mendelian randomization

This study uses GWAS and Mendelian randomization to show that lower sclerostin levels increase risk of hypertension, type 2 diabetes, myocardial infarction, and atherogenic lipid profiles.

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.

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.

Mendelian Randomization analysis reveals a causal influence of circulating sclerostin levels on bone mineral density and fractures

This paper uses Mendelian Randomization to show that higher circulating sclerostin levels causally reduce bone mineral density and increase fracture risk.

A rare SMAD9 mutation identifies the BMP signalling pathway as a potential osteoanabolic target

A rare SMAD9 mutation is linked to high bone mass, suggesting the BMP pathway as a potential osteoanabolic target.

An Atlas of Human and Murine Genetic Influences on Osteoporosis

This paper identifies 518 genetic loci associated with bone mineral density and fracture risk, validates causal genes in mice, and provides insights for osteoporosis drug development.