Cross-species analysis of genetic architecture and polygenic risk scores for non-contact ACL rupture in dogs and humans

Non-contact anterior cruciate ligament (ACL) rupture is a common heritable orthopaedic disease with serious long-term sequelae in humans and dogs, with many patients affected with moderate to severe osteoarthritis after diagnosis. The use of dog genetic data is a powerful approach to enrich human genome-wide association studies. Current clinical dogma views ACL rupture as an injury-driven event. Familial risk has been recognized in both species for many years. However, it is unclear how genetic effects interact with environmental risk to influence non-contact ACL rupture risk. We comprehensively investigated non-contact ACL rupture heritability, genetic architecture, genetic selective pressure, sharing of risk genes and biological pathways between two species, and polygenic risk score (PRS) prediction of disease risk. We confirmed moderate non-contact ACL rupture heritability in both species. In the dog model, hotspots of regional heritability were identified. We showed that non-contact..., , , # Cross-species analysis of genetic architecture and polygenic risk scores for non-contact ACL rupture in dogs and humans

[https://doi.org/10.5061/dryad.47d7wm3ns](https://doi.org/10.5061/dryad.47d7wm3ns)

Each of the two datasets consists of a PLINK binary file set consisting of the SNP genotypes, a SNP map file, and a file describing the sex of the two populations of dogs. There is a file set for the Labrador Retriever and another one for the Rottweiler. The ACL rupture phenotypes are retained at the University of Wisconsin-Madison as proprietary. 

## Description of the data and file structure

all_108_Rott.dryad.fam

PLINK binary format fam file for 108 Rottweilers

all_108_Rott.dryad.bed

PLINK binary format bed file for 108 Rottweilers

all_108_Rott.dryad.bim

PLINK binary format bim file for 108 Rottweilers

all_1006_Lab.dryad.fam

PLINK binary format fam file for 1006 Labrador Retrievers

all_1006_Lab.dryad.bed

PLINK binary format bed file for 1006 Labrador Retrievers

all_106...