A genome-wide association study of osteochondritis dissecans in the Thoroughbred
作者： Laura J. Corbin , Sarah C. Blott , June E. Swinburne , Charlene Sibbons , Laura Y. Fox-Clipsham
DOI: 10.1007/S00335-011-9363-1
关键词: Genetic marker 、 Genetics 、 Genome-wide association study 、 SNP 、 Osteochondritis 、 Quantitative trait locus 、 Biology 、 Warmblood 、 Population 、 Single-nucleotide polymorphism
摘要: Osteochondrosis is a developmental orthopaedic disease that occurs in horses, other livestock species, companion animal and humans. The principal aim of this study was to identify quantitative trait loci (QTL) associated with osteochondritis dissecans (OCD) the Thoroughbred using genome-wide association study. A secondary objective test effect previously identified QTL current population. Over 300 classified as cases or controls according clinical findings, were genotyped for Illumina Equine SNP50 BeadChip. An model first implemented order adjust each horse's phenotypic status average relatedness among horses potentially confounding factors which present data. then conducted on residuals from model. single SNP chromosome 3 found be OCD at level significance, determined by permutation. According sequence annotation, located an intergenic region genome. effects 24 SNPs, representing sample Hanoverian Warmblood tested directly When fitted alongside significant ECA3, two these SNPs OCD. Confirmation putative ECA3 requires validation independent sample. results suggest challenge faced equine researchers generation sufficiently large data sets effectively complex diseases such osteochondrosis.
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