Analysis of genomic copy number variation in equine recurrent airway obstruction (heaves).
Abstract: We explored the involvement of genomic copy number variants (CNVs) in susceptibility to recurrent airway obstruction (RAO), or heaves-an asthmalike inflammatory disease in horses. Analysis of 16 RAO-susceptible (cases) and six RAO-resistant (control) horses on a custom-made whole-genome 400K equine tiling array identified 245 CNV regions (CNVRs), 197 previously known and 48 new, distributed on all horse autosomes and the X chromosome. Among the new CNVRs, 30 were exclusively found in RAO cases and were further analyzed by quantitative PCR, including additional cases and controls. Suggestive association (P = 0.03; corrected P = 0.06) was found between RAO and a loss on chromosome 5 involving NME7, a gene necessary for ciliary functions in lungs and involved in primary ciliary dyskinesia in humans. The CNVR could be a potential marker for RAO susceptibility but needs further study in additional RAO cohorts. Other CNVRs were not associated with RAO, although several involved genes of interest, such as SPI2/SERPINA1 from the serpin gene family, which are associated with chronic obstructive pulmonary disease and asthma in humans. The SPI2/SERPINA1 CNVR showed striking variation among horses, but it was not significantly different between RAO cases and controls. The findings provide baseline information on the relationship between CNVs and RAO susceptibility. Discovery of new CNVs and the use of a larger population of RAO-affected and control horses are needed to shed more light on their significance in modulating this complex and heterogeneous disease.
© 2016 Stichting International Foundation for Animal Genetics.
Publication Date: 2016-03-01 PubMed ID: 26932307DOI: 10.1111/age.12426Google Scholar: Lookup
The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
- Journal Article
Summary
This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.
The research study explores the role of genomic copy number variants in making certain horses susceptible to a condition known as recurrent airway obstruction or heaves. The analysis identified potential genes of interest that could indicate susceptibility to this disease, thus providing a basis for further study and understanding of this complex condition.
Study Objectives and Methodology
- The primary focus of this research was to investigate potential genomic copy number variants (CNVs) in horses’ susceptibility to recurrent airway obstruction (RAO), an inflammatory lung disease similar to human asthma.
- For the analysis, the researchers used a group of 16 RAO-susceptible horses (classified as cases) and 6 RAO-resistant horses (serving as controls).
- A custom-made whole-genome 400K equine tiling array was used for the analysis.
Findings and Associations
- The analysis identified a total of 245 CNV regions, out of which 197 were previously known, and 48 were new. These regions were distributed on all horse autosomes and the X chromosome.
- Among the new CNVRs, 30 were found only in RAO cases – they were further analyzed using quantitative PCR (polymerase chain reaction), extending the research to include additional cases and controls.
- The researchers observed an association between RAO susceptibility and a loss on chromosome 5 involving NME7, a gene necessary for ciliary functions in the lungs.
- The CNVR identified has the potential to be a marker for RAO susceptibility, but this needs further investigation in additional RAO cohorts.
Comparisons and Future Directions
- Other CNVRs found were not directly associated with RAO, but they involved genes of interest such as SPI2/SERPINA1 from the serpin gene family. These genes are associated with chronic obstructive pulmonary disease and asthma in humans.
- Although SPI2/SERPINA1 CNVR showed striking variation among horses, it was not significantly different between RAO cases and controls in the study.
- The study emphasizes the need for the discovery of new CNVs and use of a larger population of RAO-affected and control horses. This might help to further clarify and understand the significance of these variants in modulating the complex and heterogeneous disease.
Cite This Article
APA
Ghosh S, Das PJ, McQueen CM, Gerber V, Swiderski CE, Lavoie JP, Chowdhary BP, Raudsepp T.
(2016).
Analysis of genomic copy number variation in equine recurrent airway obstruction (heaves).
Anim Genet, 47(3), 334-344.
https://doi.org/10.1111/age.12426 Publication
Researcher Affiliations
- Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, 77843, USA.
- Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, 77843, USA.
- National Research Centre on Yak (ICAR), Dirang, Arunachal Pradesh, 790101, India.
- Department of Large Animal Clinical Sciences, Texas A&M University, College Station, TX, 77843, USA.
- Department of Veterinary Medicine, University of Bern, Bern, Switzerland.
- Department of Clinical Sciences, College of Veterinary Medicine, Mississippi State University, Mississippi State, MS, USA.
- Department of Clinical Sciences, University of Montreal, Montreal, QC, J2S 7C6, Canada.
- Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, 77843, USA.
- New Research Complex, Qatar University, Doha, 2713, Qatar.
- Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, 77843, USA.
MeSH Terms
- Airway Obstruction / genetics
- Airway Obstruction / veterinary
- Animals
- Comparative Genomic Hybridization
- DNA Copy Number Variations
- Horse Diseases / genetics
- Horses / genetics
- Phenotype
- Real-Time Polymerase Chain Reaction
- Serpins / genetics
Citations
This article has been cited 10 times.- Kim YM, Ha SJ, Seong HS, Choi JY, Baek HJ, Yang BC, Choi JW, Kim NY. Identification of Copy Number Variations in Four Horse Breed Populations in South Korea.. Animals (Basel) 2022 Dec 12;12(24).
- Laseca N, Molina A, Valera M, Antonini A, Demyda-Peyrás S. Copy Number Variation (CNV): A New Genomic Insight in Horses.. Animals (Basel) 2022 Jun 2;12(11).
- Wang M, Liu Y, Bi X, Ma H, Zeng G, Guo J, Guo M, Ling Y, Zhao C. Genome-Wide Detection of Copy Number Variants in Chinese Indigenous Horse Breeds and Verification of CNV-Overlapped Genes Related to Heat Adaptation of the Jinjiang Horse.. Genes (Basel) 2022 Mar 28;13(4).
- Simões J, Batista M, Tilley P. The Immune Mechanisms of Severe Equine Asthma-Current Understanding and What Is Missing.. Animals (Basel) 2022 Mar 16;12(6).
- Šedová L, Buková I, Bažantová P, Petrezsélyová S, Prochazka J, Školníková E, Zudová D, Včelák J, Makovický P, Bendlová B, Šeda O, Sedlacek R. Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene.. Int J Mol Sci 2021 Apr 7;22(8).
- Couetil L, Cardwell JM, Leguillette R, Mazan M, Richard E, Bienzle D, Bullone M, Gerber V, Ivester K, Lavoie JP, Martin J, Moran G, Niedźwiedź A, Pusterla N, Swiderski C. Equine Asthma: Current Understanding and Future Directions.. Front Vet Sci 2020;7:450.
- Solé M, Ablondi M, Binzer-Panchal A, Velie BD, Hollfelder N, Buys N, Ducro BJ, François L, Janssens S, Schurink A, Viklund Å, Eriksson S, Isaksson A, Kultima H, Mikko S, Lindgren G. Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds.. BMC Genomics 2019 Oct 22;20(1):759.
- Raudsepp T, Finno CJ, Bellone RR, Petersen JL. Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era.. Anim Genet 2019 Dec;50(6):569-597.
- Schurink A, da Silva VH, Velie BD, Dibbits BW, Crooijmans RPMA, Franҫois L, Janssens S, Stinckens A, Blott S, Buys N, Lindgren G, Ducro BJ. Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity.. BMC Genet 2018 Jul 30;19(1):49.
- Tessier L, Côté O, Clark ME, Viel L, Diaz-Méndez A, Anders S, Bienzle D. Impaired response of the bronchial epithelium to inflammation characterizes severe equine asthma.. BMC Genomics 2017 Sep 8;18(1):708.
Use Nutrition Calculator
Check if your horse's diet meets their nutrition requirements with our easy-to-use tool Check your horse's diet with our easy-to-use tool
Talk to a Nutritionist
Discuss your horse's feeding plan with our experts over a free phone consultation Discuss your horse's diet over a phone consultation
Submit Diet Evaluation
Get a customized feeding plan for your horse formulated by our equine nutritionists Get a custom feeding plan formulated by our nutritionists
