Title: 2017 ACVIM Forum Research Abstract Program Document date: 2017_6_15
ID: ri2w5iby_784
Snippet: breeds, total phenotypic variance is explained by < 1% of the SNPs tested. These SNPs were further partitioned based on estimated effect sizes. In the TB, SNPs of small, moderate, and large effect account for 45%, 35%, and 20% of the phenotypic variability, respectively. Similarly, in STDBs, small, moderate, and large effect SNPs explain 47%, 30%, and 23% variability, respectively. Genome-wide association studies (GWAS) identified seven genomic r.....
Document: breeds, total phenotypic variance is explained by < 1% of the SNPs tested. These SNPs were further partitioned based on estimated effect sizes. In the TB, SNPs of small, moderate, and large effect account for 45%, 35%, and 20% of the phenotypic variability, respectively. Similarly, in STDBs, small, moderate, and large effect SNPs explain 47%, 30%, and 23% variability, respectively. Genome-wide association studies (GWAS) identified seven genomic regions of interest (ROIs) significantly associated with RER in TB (n = 491) and STDB (n = 476) horses: two in TBs, four in STDBs, and one shared locus. Of the 274 genes within these ROIs, 34 were computationally predicted to be candidate genes for rhabdomyolysis in humans. Variants in each ROI were identified using whole genome sequences from 10 RER and 10 controls in each breed. 189,610 total variants were discovered in the ROIs, with an average of 7.5 variants per kb. Of these variants, 47.5% were within genes, and 1.1% had putative functional effects. Variants will be prioritized based on segregation between RER and control horses and predicted functional effect. High-priority variants will be used to create an assay for genotyping in the entire GWAS population. The sepsis score (SS) has been used to diagnose or assume the presence of sepsis in newborn foals over the last thirty years. However, clinical experience and recent validation studies suggest that the SS is not as accurate to predict sepsis as in the original study. Therefore, a novel scoring methodthe foal survival score (FSS) was recently developed to predict likelihood of survival in sick newborn foals. Based on sensitivity and specificity, the FSS has good ability to predict survival; however, the association of the FSS with severity of illness remains to be determined. The lower the FSS the more likely is the foal to die. High SS indicates severe disease. We hypothesized that the FSS will be a good predictor of disease severity (compared to SS) and outcome in hospitalized foals.
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