Evaluation of variants in the ENTPD1 and ENTPD2 genes in athletic horses with exercise-induced pulmonary haemorrhage.

Summary

Exercise-induced pulmonary haemorrhage (EIPH) remains a significant performance-limiting condition in athletic horses, yet its underlying genetic mechanisms are poorly understood despite affecting a considerable proportion of the sport horse population. Researchers investigated whether genetic variants in ENTPD1 and ENTPD2—genes encoding nucleotidase enzymes involved in platelet function and haemostasis—might predispose horses to EIPH by comparing affected and unaffected athletic horses and analysing associations with bleeding phenotype. The study identified specific genetic polymorphisms in both genes that showed differential expression between EIPH-positive and control populations, suggesting a genuine genetic component to susceptibility, though the precise functional consequences of these variants on haemostatic pathways require further characterisation. Understanding these molecular contributors matters considerably for practitioners, as it opens potential avenues for genetic screening of bloodstock and indicates that EIPH cannot be attributed solely to environmental or training factors—some horses may carry inherent coagulation vulnerabilities that demand modified conditioning protocols or targeted interventions. Further functional studies linking these variants to platelet dysfunction or impaired vascular integrity would strengthen the translational value for risk stratification and management of affected athletes.

Read the full abstract on PubMed

Key Findings

• •Variants in ENTPD1 and ENTPD2 genes were identified in athletic horses with EIPH, suggesting a genetic component to disease pathogenesis
• •The functional role of these genetic variants in haemostatic dysfunction remains unclear and requires further investigation

Conditions Studied

Tags