Variants of the MSTN gene encoding myostatin are associated with muscle hypertrophy phenotypes in a range of mammalian species, most notably cattle, dogs, mice, and humans. Using a sample of registered Thoroughbred horses (n = 148), we have identified a novel MSTN sequence polymorphism that is strongly associated (g.66493737C>T, P = 4.85×10−8) with best race distance among elite racehorses (n = 79). This observation was independently validated (P = 1.91×10−6) in a resampled group of Thoroughbreds (n = 62) and in a cohort of Thoroughbreds (n = 37, P = 0.0047) produced by the same trainer. We observed that C/C horses are suited to fast, short-distance races; C/T horses compete favorably in middle-distance races; and T/T horses have greater stamina. Evaluation of retrospective racecourse performance (n = 142) and stallion progeny performance predict that C/C and C/T horses are more likely to be successful two-year-old racehorses than T/T animals. Here we describe for the first time the identification of a gene variant in Thoroughbred racehorses that is predictive of genetic potential for an athletic phenotype.
SummaryThe recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of inheritance, to a 2-MB region of chromosome 14 using just 10 affected animals and 10 controls. We successfully genotyped 34 429 SNPs that were tested for association with dwarfism using chi-square tests. The most significant SNP in our study, BIEC2-239376 (P 2df = 4.54 · 10 )5 , P rec = 7.74 · 10), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results.
RESULTS:There were 8269 liquid nicotine exposures among children <6 years old reported to US poison control centers during the study period. Most (92.5%) children were exposed through ingestion and 83.9% were children <3 years old. Among children exposed to liquid nicotine, 35.1% were treated and released from a health care facility, and 1.4% were admitted. The annual exposure rate per 100 000 children increased by 1398.2% from 0.7 in 2012 to 10.4 in 2015, and subsequently decreased by 19.8% from 2015 to 8.3 in 2016. Among states without a preexisting law requiring child-resistant packaging for liquid nicotine containers, there was a significant decrease in the mean number of exposures during the 9 months before compared with the 9 months after the federal child-resistant packaging law went into effect, averaging 4.4 (95% confidence interval: −7.1 to −1.7) fewer exposures per state after implementation of the law.CONCLUSIONS: Pediatric exposures to liquid nicotine have decreased since January 2015, which may, in part, be attributable to legislation requiring child-resistant packaging and greater public awareness of risks associated with electronic cigarette products. Liquid nicotine continues to pose a serious risk for young children. Additional regulation of these products is warranted.abstract
Variants of the MSTN gene encoding myostatin are associated with muscle hypertrophy phenotypes in a range of mammalian species, most notably cattle, dogs, mice, and humans. Using a sample of registered Thoroughbred horses (n = 148), we have identified a novel MSTN sequence polymorphism that is strongly associated (g.66493737C.T, P = 4.85610 28 ) with best race distance among elite racehorses (n = 79). This observation was independently validated (P = 1.91610 26 ) in a resampled group of Thoroughbreds (n = 62) and in a cohort of Thoroughbreds (n = 37, P = 0.0047) produced by the same trainer. We observed that C/C horses are suited to fast, short-distance races; C/T horses compete favorably in middle-distance races; and T/T horses have greater stamina. Evaluation of retrospective racecourse performance (n = 142) and stallion progeny performance predict that C/C and C/T horses are more likely to be successful two-year-old racehorses than T/T animals. Here we describe for the first time the identification of a gene variant in Thoroughbred racehorses that is predictive of genetic potential for an athletic phenotype.
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