Genetics of Equine Reproductive Diseases
Authors: Raudsepp Terje
Journal: Veterinary Clinics of North America: Equine Practice
Summary
# Editorial Summary: Genetics of Equine Reproductive Diseases Reproductive disorders in horses represent a genetically heterogeneous group of conditions, yet the current toolkit for genetic testing remains remarkably limited, comprising primarily chromosomal analysis and assessment of a single susceptibility locus. Raudsepp's 2020 review establishes that cytogenetic analysis should form the first-line diagnostic approach when chromosomal abnormalities are suspected, though causative genes and mutations underlying most subfertility cases remain unidentified. Currently, only one validated genetic test exists for stallion subfertility—screening for variants in the FKBP6 gene—highlighting a substantial gap between the clinical prevalence of reproductive problems and our molecular understanding of their aetiology. Advances in equine genomic sequencing technologies offer genuine promise for expanding the diagnostic landscape, yet translating these developments into clinical practice faces a fundamental constraint: the difficulty of assembling sufficiently large cohorts of affected animals with detailed pedigree information and known phenotypes. For equine professionals managing breeding programmes, this underscores the critical need for systematic data collection and collaborative communication between veterinarians, geneticists, breeders and stud farm managers to accelerate progress beyond our current single-gene testing capacity.
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Practical Takeaways
- •When investigating subfertility in stallions, cytogenetic analysis should be your starting point to rule out chromosomal abnormalities before pursuing other diagnostic avenues
- •Genetic testing for equine reproductive problems remains limited in scope; most cases require clinical diagnosis and management rather than relying on genetic tests
- •Breeders and veterinarians should participate in collaborative data collection to advance the field, as large pedigrees and samples are critical for identifying new genetic causes
Key Findings
- •Equine reproductive disorders are genetically heterogeneous with limited genetic tests currently available, restricted to chromosome analysis and one susceptibility gene (FKBP6)
- •No causative genes or mutations for equine reproductive diseases have been identified to date
- •Cytogenetic analysis is the first-line test for confirming or ruling out chromosomal aberrations in reproductive disorders
- •Progress in genetic testing is hindered by difficulties in collecting large sample sizes and pedigrees from subfertile horses, requiring collaboration between geneticists, clinicians, breeders, and owners