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  • 1
    In: Animal Genetics, Wiley, Vol. 45, No. 3 ( 2014-06), p. 392-399
    Abstract: Appaloosa horses are predisposed to equine recurrent uveitis ( ERU ), an immune‐mediated disease characterized by recurring inflammation of the uveal tract in the eye, which is the leading cause of blindness in horses. Nine genetic markers from the ECA 1 region responsible for the spotted coat color of Appaloosa horses, and 13 microsatellites spanning the equine major histocompatibility complex ( ELA ) on ECA 20, were evaluated for association with ERU in a group of 53 Appaloosa ERU cases and 43 healthy Appaloosa controls. Three markers were significantly associated (corrected P ‐value 〈 0.05): a SNP within intron 11 of the TRPM 1 gene on ECA 1, an ELA class I microsatellite located near the boundary of the ELA class III and class II regions and an ELA class II microsatellite located in intron 1 of the DRA gene. Association between these three genetic markers and the ERU phenotype was confirmed in a second population of 24 insidious ERU Appaloosa cases and 16 Appaloosa controls. The relative odds of being an ERU case for each allele of these three markers were estimated by fitting a logistic mixed model with each of the associated markers independently and with all three markers simultaneously. The risk model using these markers classified ~80% of ERU cases and 75% of controls in the second population as moderate or high risk, and low risk respectively. Future studies to refine the associations at ECA 1 and ELA loci and identify functional variants could uncover alleles conferring susceptibility to ERU in Appaloosa horses.
    Type of Medium: Online Resource
    ISSN: 0268-9146 , 1365-2052
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2014
    detail.hit.zdb_id: 1472889-8
    SSG: 22
    SSG: 12
    Location Call Number Limitation Availability
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  • 2
    In: Animal Genetics, Wiley, Vol. 41, No. s2 ( 2010-12), p. 111-120
    Abstract: Osteochondrosis (OC), a disturbance in the process of endochondral ossification, is by far the most important equine developmental orthopaedic disease and is also common in other domestic animals and humans. The purpose of this study was to identify quantitative trait loci (QTL) associated with osteochondrosis dissecans (OCD) at the intermediate ridge of the distal tibia in Norwegian Standardbred (SB) using the Illumina Equine SNP50 BeadChip whole‐genome single‐nucleotide polymorphism (SNP) assay. Radiographic data and blood samples were obtained from 464 SB yearlings. Based on the radiographic examination, 162 horses were selected for genotyping; 80 of these were cases with an OCD at the intermediate ridge of the distal tibia, and 82 were controls without any developmental lesions in the joints examined. Genotyped horses descended from 22 sires, and the number of horses in each half‐sib group ranged from 3 to 14. The population structure necessitated statistical correction for stratification. When conducting a case–control genome‐wide association study (GWAS), mixed‐model analyses displayed regions on chromosomes ( Equus callabus chromosome – ECA) 5, 10, 27 and 28 that showed moderate evidence of association ( P  ≤   5 × 10 −5 ; this P ‐value is uncorrected i.e. not adjusted for multiple comparisons) with OCD in the tibiotarsal joint. Two SNPs on ECA10 represent the most significant hits (uncorrected P  =   1.19 × 10 −5 in the mixed‐model). In the basic association (chi‐square) test, these SNPs achieved statistical significance with the Bonferroni correction ( P  =   0.038) and were close in the permuted logistic regression test ( P  =   0.054). Putative QTL on ECA 5, 10, 27 and 28 represent interesting areas for future research, validation studies and fine mapping of candidate regions. Results presented here represent the first GWAS of OC in horses using the recently released Illumina Equine SNP50 BeadChip.
    Type of Medium: Online Resource
    ISSN: 0268-9146 , 1365-2052
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2010
    detail.hit.zdb_id: 1472889-8
    SSG: 22
    SSG: 12
    Location Call Number Limitation Availability
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  • 3
    In: Animal Genetics, Wiley, Vol. 44, No. 6 ( 2013-12), p. 766-769
    Abstract: Palmar/plantar osteochondral fragments ( POF ) in fetlock joints commonly affect and influence the athletic performance of horses. In this study, we used the Equine SNP 50 BeadChip ® to perform a genome‐wide association study of metatarsophalangeal POF in 176 Norwegian Standardbred trotter yearlings. Putative quantitative trait loci ( QTL ) for medial and/or lateral POF , and medial POF only were identified on ECA 1, 2, 7, 9 and 31, whereas for lateral POF , only on ECA 7, 11, 27 and X. The moderate number of QTL evidences a complex inheritance and suggests various genes controlling POF development in medial and lateral locations.
    Type of Medium: Online Resource
    ISSN: 0268-9146 , 1365-2052
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2013
    detail.hit.zdb_id: 1472889-8
    SSG: 22
    SSG: 12
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
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