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Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed.
Equine Veterinary Journal ( IF 2.2 ) Pub Date : 2019-10-04 , DOI: 10.1111/evj.13182
R R Bellone 1, 2 , N R Ocampo 1 , S S Hughes 1 , V Le 1 , R Arthur 3 , C J Finno 2 , M C T Penedo 1
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BACKGROUND Catastrophic fractures are among the most common cause of fatalities in racehorses. Several factors, including genetics, likely contribute to increased risk for fatal injuries. A variant in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase1 gene (PLOD1 c.2032G>A) was shown to cause Warmblood fragile foal syndrome type 1 (WFFS), a fatal recessive defect of the connective tissue. Screening of multiple horse breeds identified the presence of the WFFS allele in the Thoroughbred. PLOD1 is involved in cross-linking of collagen fibrils and thus could potentially increase the risk of catastrophic breakdown. OBJECTIVES Estimate the frequency of the WFFS allele (PLOD1 c.2032G>A) and determine if it is a risk factor for catastrophic breakdown in the Thoroughbred. STUDY DESIGN Case-control genetic study. METHODS Genomic DNA from hair and/or tissue samples was genotyped for the WFFS allele. Fisher's Exact tests were performed to compare allele and carrier frequencies between the case cohort (catastrophic breakdown, n = 22) and several cohorts with no record of injury (n = 138 raced/trained at same track and season and n = 185 older than 7 years and raced during same season), nonracers (n = 92), and a random sample without consideration for racing history (n = 279). RESULTS The frequency of the PLOD1 c.2032G>A variant in the Thoroughbred breed is low (1.2%). Seventeen of 716 Thoroughbreds tested were carriers (2.4%) and no WFFS homozygotes were detected. Only one catastrophic breakdown case carried the WFFS allele. No statistically significant difference in allele or carrier frequency was identified between case and control cohorts (P>0.05 in all comparisons performed). MAIN LIMITATIONS This study evaluated cases from one single track. CONCLUSIONS This study demonstrated that the PLOD1 c.2032G>A associated with WFFS is present at very low frequency in Thoroughbreds and is not a genetic risk factor for catastrophic breakdown.

中文翻译:

温血脆弱马驹综合征 1 型突变 (PLOD1 c.2032G>A) 与灾难性崩溃无关,并且在纯种品种中具有低等位基因频率。

背景技术灾难性骨折是赛马死亡的最常见原因之一。包括遗传在内的几个因素可能会增加致命伤害的风险。前胶原-赖氨酸、2-氧代戊二酸 5-双加氧酶1 基因 (PLOD1 c.2032G>A) 中的一个变体被证明会导致温血马脆性马驹综合征 1 型 (WFFS),这是一种致命的结缔组织隐性缺陷。对多个马品种的筛选确定了纯种马中存在 WFFS 等位基因。PLOD1 参与胶原原纤维的交联,因此可能会增加灾难性破坏的风险。目标 估计 WFFS 等位基因 (PLOD1 c.2032G>A) 的频率,并确定它是否是纯种马灾难性崩溃的风险因素。研究设计 病例对照遗传研究。方法 对来自头发和/或组织样本的基因组 DNA 进行 WFFS 等位基因的基因分型。进行 Fisher 精确检验以比较病例组(灾难性故障,n = 22)和几个没有受伤记录的组(n = 138 在相同的赛道和赛季比赛/训练,n = 185 岁以上)之间的等位基因和携带者频率年并在同一赛季比赛)、非赛车手(n = 92)和不考虑赛车历史的随机样本(n = 279)。结果 PLOD1 c.2032G>A 变种在纯种品种中的频率很低(1.2%)。测试的 716 只纯种马中有 17 只是携带者(2.4%),未检测到 WFFS 纯合子。只有一个灾难性的故障案例带有 WFFS 等位基因。在病例组和对照组之间没有发现等位基因或携带者频率的统计学显着差异(P>0. 05 在进行的所有比较中)。主要限制 本研究从一个单一的轨道评估案例。结论 该研究表明,与 WFFS 相关的 PLOD1 c.2032G>A 在纯种马中的频率非常低,并且不是灾难性崩溃的遗传风险因素。
更新日期:2019-10-04
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