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弗里斯兰马的慢性进行性淋巴水肿:患病马匹的提示性表型及全基因组关联研究

Chronic progressive lymphoedema in Friesian horses: suggestive phenotype of affected horses and genome-wide association study.

作者信息

Affolter Verena K, Dalley Brittany, Kass Philip H, Brown Emily A, Sonder Claudia, Bannasch Dannika L

机构信息

Department of Pathology, Microbiology, Immunology, School of Veterinary Medicine, University California, Davis, One Garrod Drive, Davis, CA, 95616, USA.

Department of Population Health and Reproduction, School of Veterinary Medicine, University California, Davis, One Garrod Drive, Davis, CA, 95616, USA.

出版信息

Vet Dermatol. 2020 Jun;31(3):234-e51. doi: 10.1111/vde.12831. Epub 2020 Jan 6.

DOI:10.1111/vde.12831
PMID:31908060
Abstract

BACKGROUND

Chronic progressive lymphoedema (CPL) is a disabling condition affecting various draft horse breeds, including Friesian horses.

HYPOTHESIS

The high incidence of CPL in Friesian horses suggests a genetic component and a predisposing phenotype.

ANIMALS

For the genomic study, 26 affected and 19 control horses were evaluated. Body measurements were taken from 28 affected and nine control Friesian horses.

METHODS AND MATERIALS

Axiom® Equine Genotyping Array with a total of 307,474 single nucleotide polymorphism (SNPs) was used for the case/control genome-wide association study (GWAS). Height, weight and leg measurements (seven different body measurements) were obtained and compared between groups.

RESULTS

No significant associations were identified with the GWAS. There were significant differences (P < 0.05) in gaskin length measurements between CPL-affected horses and controls.

CONCLUSION

The current study suggests that the potential genetic contribution to CPL in Friesian horses is complex and may include other SNP-associated factors. Significantly increased gaskin length of affected horses suggests a phenotype prone to developing CPL.

摘要

背景

慢性进行性淋巴水肿(CPL)是一种致残性疾病,影响包括弗里斯兰马在内的各种挽马品种。

假设

弗里斯兰马中CPL的高发病率表明存在遗传因素和易患表型。

动物

为进行基因组研究,对26匹患病马和19匹对照马进行了评估。对28匹患病弗里斯兰马和9匹对照弗里斯兰马进行了身体测量。

方法和材料

使用共有307,474个单核苷酸多态性(SNP)的Axiom®马基因分型芯片进行病例/对照全基因组关联研究(GWAS)。获取了身高、体重和腿部测量值(七种不同的身体测量值)并在组间进行比较。

结果

GWAS未发现显著关联。CPL患病马与对照马之间的腓肠肌长度测量值存在显著差异(P < 0.05)。

结论

当前研究表明,弗里斯兰马中CPL的潜在遗传因素较为复杂,可能包括其他与SNP相关的因素。患病马腓肠肌长度显著增加表明存在易于发生CPL的表型。

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