Analysis of genomic copy number variation in equine recurrent airway obstruction (heaves)

Ghosh, S.; Das, P. J.; McQueen, C. M.; Gerber, Vinzenz; Swiderski, C. E.; Lavoie, J.-P.; Chowdhary, B. P; Raudsepp, T. (2016). Analysis of genomic copy number variation in equine recurrent airway obstruction (heaves). Animal genetics, 47(3), pp. 334-344. Blackwell 10.1111/age.12426

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > Host-Pathogen Interaction
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > Equine Clinic
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV)

UniBE Contributor:

Gerber, Vinzenz

Subjects:

600 Technology > 630 Agriculture

ISSN:

0268-9146

Publisher:

Blackwell

Language:

English

Submitter:

Andrea Gassmann-Suter

Date Deposited:

06 Jul 2017 14:06

Last Modified:

06 Jul 2017 14:06

Publisher DOI:

10.1111/age.12426

PubMed ID:

26932307

BORIS DOI:

10.7892/boris.93918

URI:

https://boris.unibe.ch/id/eprint/93918

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