Abstract:
:We used the data from a recently performed genome-wide association study using the Illumina Equine SNP50 beadchip for the detection of copy number variants (CNVs) and examined their association with recurrent laryngeal neuropathy (RLN), an important equine upper airway disease compromising performance. A total of 2797 CNVs were detected for 477 horses, covering 229 kb and seven SNPs on average. Overlapping CNVs were merged to define 478 CNV regions (CNVRs). CNVRs, particularly deletions, were shown to be significantly depleted in genes. Fifty-two of the 67 common CNVRs (frequency ≥ 1%) were validated by association mapping, Mendelian inheritance, and/or Mendelian inconsistencies. None of the 67 common CNVRs were significantly associated with RLN when accounting for multiple testing. However, a duplication on chromosome 10 was detected in 10 cases (representing three breeds) and two unphenotyped parents but in none of the controls. The duplication was embedded in an 8-Mb haplotype shared across breeds.
journal_name
Anim Genetjournal_title
Animal geneticsauthors
Dupuis MC,Zhang Z,Durkin K,Charlier C,Lekeux P,Georges Mdoi
10.1111/j.1365-2052.2012.02373.xsubject
Has Abstractpub_date
2013-04-01 00:00:00pages
206-8issue
2eissn
0268-9146issn
1365-2052journal_volume
44pub_type
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