Kapusniak Amie, Nath Laura, Hebart Michelle, Franklin Samantha
School of Animal & Veterinary Sciences, University of Adelaide, Adelaide, South Australia, Australia.
Equine Vet J. 2025 Mar;57(2):325-332. doi: 10.1111/evj.14130. Epub 2024 Jul 10.
Sudden cardiac death (SCD) is an important cause of exercise-associated fatalities in Thoroughbred racehorses. Equine deaths share similarities with fatalities in human athletes that result from inherited cardiac disease. Whilst genetic causes have been postulated in horses, these have not been confirmed and heritability of SCD has not previously been estimated in Thoroughbred racehorses.
To determine the heritability of SCD in a sample population of Thoroughbred racehorses.
Retrospective case-control study.
Steward and post-mortem reports of Thoroughbred racehorses in Australia between 2007 and 2020 were reviewed to identify horses with SCD. Control horses were randomly selected from races in which SCD occurred or from races on the date of the case fatality. A five-generation integrated pedigree chart was collected for each horse. Estimates of heritability were obtained using an animal model in the ASReml-R program with variance components estimated assuming SCD was normally distributed, and on the logit transformed scale. Inbreeding coefficients were calculated and the risk of producing SCD-affected progeny was calculated for stallions that sired ≥5 individuals in the case-control population.
Ninety-three horses with SCD and 465 control horses were identified. Heritability on the underlying scale was 0.15 ± 0.09 (logit animal) and 0.24 ± 0.12 (normal animal). Inbreeding coefficients were not significantly different between groups. Of the 16 first generation sires that appeared ≥5 times in the case-control data set, two sires more frequently produced affected progeny (OR 7.95-10.41).
Challenges in definitively confirming SCD may lead to misclassification of some cases. Some control horses may have not been exposed to environmental influences of SCD. Case numbers are low and the studied population may not represent the entire Thoroughbred genetic pool.
The heritability of SCD in this population was relatively low. However, individual stallions appear more likely to produce affected progeny. Further studies are required to understand the genetic and environmental influences that contribute to disease expression.
心脏性猝死(SCD)是纯种赛马运动相关死亡的重要原因。马的死亡与人类运动员因遗传性心脏病导致的死亡有相似之处。虽然马的遗传病因已被推测,但尚未得到证实,且此前纯种赛马中SCD的遗传力尚未得到估计。
确定纯种赛马样本群体中SCD的遗传力。
回顾性病例对照研究。
查阅2007年至2020年澳大利亚纯种赛马的饲养员和尸检报告,以确定患有SCD的马匹。对照马从发生SCD的比赛或病例死亡日期的比赛中随机选取。为每匹马收集五代综合系谱图。使用ASReml - R程序中的动物模型获得遗传力估计值,假设SCD呈正态分布,并在对数转换尺度上估计方差成分。计算近亲繁殖系数,并为在病例对照群体中生育≥5匹后代的种马计算产生受SCD影响后代的风险。
确定了93匹患有SCD的马和465匹对照马。潜在尺度上的遗传力为0.15±0.09(对数动物)和0.24±0.12(正态动物)。两组之间的近亲繁殖系数无显著差异。在病例对照数据集中出现≥5次的16匹第一代种马中,有两匹种马更频繁地产下受影响的后代(优势比7.95 - 10.41)。
明确确诊SCD存在挑战,可能导致一些病例分类错误。一些对照马可能未受到SCD环境影响。病例数量较少,且研究群体可能不代表整个纯种马基因库。
该群体中SCD的遗传力相对较低。然而,个别种马似乎更有可能产出受影响的后代。需要进一步研究以了解导致疾病表现的遗传和环境影响因素。