OMIA:002631-9615 : Delayed postoperative hemorrhage in Canis lupus familiaris (dog)
Categories: Haematopoietic system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant with incomplete penetrance
Considered a defect: yes
Key variant known: no
Cross-species summary: Bleeding disorder
Species-specific symbol: DEPOH
Mapping: Court et al. (2023): "Genome-wide association analysis [in 8 affected and 17 control Scottish Deerhounds] identified a single locus on chromosome 9 spanning 40 genes . One of these genes (SERPINF2 encoding alpha-2 antiplasmin) was directly linked to the pathophysiology of DEPOH."
Molecular basis: Court et al. (2023): "The entire cohort [of 72 Scottish Deerhounds] was genotyped for a missense SERPINF2 variant (c.605 C>T; p.A202V). Compared to dogs with the reference C/C genotype, the likelihood of DEPOH was significantly higher for dogs with the T/T genotype (odds ratio [OR] = 1235; 95% confidence interval [CI] = 23-6752; P = 0.0005) and with the C/T genotype (OR = 28; 95% CI = 1.4-542; P = 0.03). ... The SERPINF2 haplotype marker we used in this study does alter the alpha-2 antiplasmin protein sequence. However, preliminary computational analysis indicates that this amino acid substitution is not likely to have a major effect on biological function. Consequently, this marker might only be useful for predicting the risk for DEPOH in Scottish deerhounds, and not for other breeds (such a greyhounds), which could have a different haplotype structure."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Greyhound (Dog) (VBO_0200638),
Scottish Deerhound (Dog) (VBO_0201195).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SERPINF2||serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2||Canis lupus familiaris||9||NC_051813.1 (46703271..46710872)||SERPINF2||Homologene, Ensembl , NCBI gene|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2023||Court, M.H., Kiser, J.N., Neibergs, H.L., Zhu, Z., Dillberger, J.E. :|
|Identification by whole genome sequencing of genes associated with delayed postoperative hemorrhage in Scottish deerhounds. J Vet Intern Med , 2023. Pubmed reference: 36780177. DOI: 10.1111/jvim.16643.|
|2008||Lara-García, A., Couto, C.G., Iazbik, M.C., Brooks, M.B. :|
|Postoperative bleeding in retired racing greyhounds. J Vet Intern Med 22:525-33, 2008. Pubmed reference: 18466249. DOI: 10.1111/j.1939-1676.2008.0088.x.|
|2007||Lord, L.K., Yaissle, J.E., Marin, L., Couto, C.G. :|
|Results of a web-based health survey of retired racing Greyhounds. J Vet Intern Med 21:1243-50, 2007. Pubmed reference: 18196733.|
- Created by Imke Tammen2 on 18 Feb 2023
- Changed by Imke Tammen2 on 18 Feb 2023
- Changed by Imke Tammen2 on 23 Feb 2023