Evaluation of variants in the ENTPD1 and ENTPD2 genes in athletic horses with exercise-induced pulmonary haemorrhage.
Abstract: Exercise-induced pulmonary haemorrhage (EIPH) in athletic horses is characterized by the presence of blood from the lungs in the tracheobronchial tree after intense exercise. Despite the high prevalence of EIPH in horses, the primary aetiology remains unknown. Variants in the genes encoding CD39 and CD39L1 (ENTPD1 and ENTPD2, respectively) were previously reported as potential genetic causes involved in EIPH pathogenesis. However, the role of these variants in haemostatic functions is unknown. Results: To investigate the association between EIPH and missense variants in the ENTPD1 (rs1152296272, rs68621348, and rs68621347) and ENTPD2 genes (rs782872967), 76 Thoroughbred horses diagnosed with EIPH and 56 without clinical signs of EIPH (control group) by trachea-bronchial endoscopy were genotyped. The rs1152296272 and rs68621347 variants were linked, which explained why the same results were found in all horses. Approximately 96% and 95% of the EIPH and control horses, respectively, carried at least one nonreference allele for these variants. In contrast, 100% of the control horses and 96% of the EIPH horses were homozygous for the reference allele for the rs68621348 variant. In the EIPH group, 1.5% of the horses were homozygotes and 24% were heterozygous for the nonreference allele of the rs782872967 variant. In the control group, the nonreference allele of this variant was observed only in heterozygotes (16%). There were no significant differences between groups for any of the variants. Conclusions: The variants previously described in the genes encoding the CD39 and CD39L1 enzymes were highly present in the studied population. However, no association was found between the occurrence of EIPH and the presence of these variants in Thoroughbred horses in this study.
© 2024. The Author(s).
Publication Date: 2024-08-06 PubMed ID: 39103835PubMed Central: 4895427DOI: 10.1186/s12917-024-04192-8Google Scholar: Lookup
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Summary
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The research involves evaluating certain gene variants in athletic horses to understand their connection with exercise-induced pulmonary haemorrhage (EIPH), a condition where horses bleed from their lungs following intense exercise. The results reveal no significant link between these gene variants and EIPH among Thoroughbred horses.
Study Motive
- This study was initiated to understand the aetiology of Exercise-induced pulmonary haemorrhage (EIPH) in Thoroughbred horses, a condition characterized by the presence of blood from the lungs into the tracheobronchial tree post intense exercise. Despite its high prevalence, the origins remain unclear.
- Previous studies hinted at gene variants, especially those encoding CD39 and CD39L1 (ENTPD1 and ENTPD2) as potential genetic causes of EIPH. Thus, the research intended to explore this possibility further.
Research Method
- The research focused on evaluating the missense variants in the ENTPD1 and ENTPD2 genes in 76 Thoroughbred horses with EIPH and 56 without symptoms as a control group.
- The horses were diagnosed through trachea-bronchial endoscopy.
- The team genotyped each horse to gather genetic data, specifically relating to ENTPD1 and ENTPD2 variants.
Key Findings
- The variants rs1152296272 and rs68621347 were found to be linked, meaning identical results were noted across all horses.
- Almost 96% of EIPH horses and 95% of the control group carried at least one nonreference allele for these variants.
- The control group portrayed 100% homozygosity for the rs68621348 variant reference allele, while the figure stood at 96% for the EIPH group.
- Nonreference allele of variant rs782872967 was observed only in heterozygotes in the control group (16%) and to a higher extent in the EIPH group (24% heterozygous, 1.5% homozygous).
- No significant differences between the EIPH group and control group were found for any of the gene variants.
Conclusion
- The gene variants under study, specifically those encoding the CD39 and CD39L1 enzymes were found to be highly prevalent in the studied population.
- However, no significant association was found between the occurrence of EIPH and these gene variants in Thoroughbred horses.
Cite This Article
APA
Leite RO, Albertino LG, Sperandio LMS, Campos F, Campos R, Borges AS, Oliveira-Filho JP.
(2024).
Evaluation of variants in the ENTPD1 and ENTPD2 genes in athletic horses with exercise-induced pulmonary haemorrhage.
BMC Vet Res, 20(1), 346.
https://doi.org/10.1186/s12917-024-04192-8 Publication
Researcher Affiliations
- School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science, São Paulo State University (Unesp), Botucatu, Brazil.
- School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science, São Paulo State University (Unesp), Botucatu, Brazil.
- School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science, São Paulo State University (Unesp), Botucatu, Brazil.
- Equine Center, Equine Diagnosis and Therapy Center, São Paulo, Brazil.
- Equine Center, Equine Diagnosis and Therapy Center, São Paulo, Brazil.
- School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science, São Paulo State University (Unesp), Botucatu, Brazil.
- School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science, São Paulo State University (Unesp), Botucatu, Brazil. jose.oliveira-filho@unesp.br.
MeSH Terms
- Animals
- Horses
- Horse Diseases / genetics
- Hemorrhage / veterinary
- Hemorrhage / genetics
- Physical Conditioning, Animal
- Lung Diseases / veterinary
- Lung Diseases / genetics
- Male
- Apyrase / genetics
- Female
- Genetic Predisposition to Disease
- Genotype
- Mutation, Missense
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