# Connections Between Gene Polymorphism and Fetlock and Hock Measurements in Polish Sport Horses

**Authors:** Dorota Lewczuk, Maria Wypchło, Mateusz Hecold, Roma Buczkowska, Agnieszka Korwin-Kossakowska

PMC · DOI: 10.3390/ijms26199645 · 2025-10-02

## TL;DR

This study explores how gene variations in Polish sport horses are linked to bone structure measurements in fetlock and hock joints.

## Contribution

The study identifies specific gene polymorphisms associated with bone structure variations in sport horses, offering insights into genetic influences on musculoskeletal development.

## Key findings

- Heterozygotes of COL9A2, AOAH1, BMPER, HYAL3, and ELMO1 showed larger fetlock bone structures.
- Heterozygotes of COL9A2, HYAL3, ANLN, and HYAL1 had superior hock bone measurements compared to homozygotes.
- Certain homozygous variants (e.g., TT for HYAL3) resulted in lower bone structure values in fetlock and hock joints.

## Abstract

Finding the causative mutations for musculoskeletal system development and health status is of a higher priority for all sport horse breeders’ associations. Of the regulating proteins involved in animal ossification, 15 gene polymorphisms were chosen to be identified as connected with the nine fetlock and 14 hock bone structures measurements of 198 horses. All measurements were taken using X-rays of the limbs, which were available at the beginning and end of the horse training. The analysis of variance (GLM, SAS program) was performed taking into account identified training and horse-connected characteristics, and gene polymorphism. The larger size of the bone structure was achieved in the fetlock for the heterozygotes of COL9A2, AOAH1, BMPER, HYAL3, and ELMO1. The heterozygotes were superior to homozygotes in the hock for the following genes: COL9A2, HYAL3, ANLN, and HYAL1. The lower homozygote values were obtained for GG in CPVL in fetlock measurements, TT for HYAL3 in fetlock, TT for ANLN in fetlock, CC for FRZB in the hock, TT for MATN in the hock, and TT for COL5A2 in the hock than their opposite homozygote and heterozygote variants. COL9A2 and HYAL3 are expressed in the same way for most of the bone structures in both joints.

## Linked entities

- **Genes:** COL9A2 (collagen type IX alpha 2 chain) [NCBI Gene 1298], BMPER (BMP binding endothelial regulator) [NCBI Gene 168667], HYAL3 (hyaluronidase 3) [NCBI Gene 8372], ELMO1 (engulfment and cell motility 1) [NCBI Gene 9844], CPVL (carboxypeptidase vitellogenic like) [NCBI Gene 54504], ANLN (anillin, actin binding protein) [NCBI Gene 54443], FRZB (frizzled related protein) [NCBI Gene 2487], COL5A2 (collagen type V alpha 2 chain) [NCBI Gene 1290]

## Full-text entities

- **Genes:** HYAL3 [NCBI Gene 100061939], HYAL1 [NCBI Gene 100061875], ELMO1 [NCBI Gene 100055551], CPVL [NCBI Gene 100069591], COL5A2 [NCBI Gene 100054421], COL9A2 [NCBI Gene 100009713], FRZB [NCBI Gene 100068206], BMPER [NCBI Gene 100070275], ANLN [NCBI Gene 100070572]
- **Species:** Equus caballus (domestic horse, species) [taxon 9796]

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Source: https://tomesphere.com/paper/PMC12525504