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Analysis of genomic copy number variation in equine recurrent airway obstruction (heaves)
Author(s) -
Ghosh S.,
Das P. J.,
McQueen C. M.,
Gerber V.,
Swiderski C. E.,
Lavoie J.P.,
Chowdhary B. P,
Raudsepp T.
Publication year - 2016
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/age.12426
Subject(s) - biology , copy number variation , genetics , variation (astronomy) , genome , gene , physics , astrophysics
Summary We explored the involvement of genomic copy number variants ( CNV s) 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 ( CNVR s), 197 previously known and 48 new, distributed on all horse autosomes and the X chromosome. Among the new CNVR s, 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 NME 7, 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 CNVR s were not associated with RAO , although several involved genes of interest, such as SPI 2/ SERPINA 1 from the serpin gene family, which are associated with chronic obstructive pulmonary disease and asthma in humans. The SPI 2/ SERPINA 1 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 CNV s and RAO susceptibility. Discovery of new CNV s 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.