Exploring the genetics underpinning dynamic laryngeal collapse associated with poll flexion in Norwegian-Swedish Coldblooded Trotter racehorses.

BACKGROUND: Dynamic laryngeal collapse (DLC) associated with poll flexion is the most common disorder of the upper respiratory tract (URT) in the Norwegian-Swedish Coldblooded Trotter (NSCT). The disorder, which has also been diagnosed in other breeds of trotters and gaited horses, appears to be related to anatomic phenotypes and only occurs during poll flexion when the horse is exercised 'on the bit'. OBJECTIVES: Identify genomic regions associated with DLC in the NSCT by combining a rigorous phenotyping protocol with genomic data from a high-density equine genotyping array. STUDY DESIGN: Prospective case/control study. METHODS: High-speed treadmill endoscopy was used to phenotype horses (n = 61) for DLC, distinguishing between cases and controls. Genome-wide association (GWA) analysis of DLC status was then performed using a principal component approach (PCA) with haplotype analyses subsequently performed for regions containing single-nucleotide polymorphisms (SNPs) above the suggestive genome-wide significance (GWS) threshold (P<1.0 × 10-5 ). RESULTS: One region containing 10 SNPs (Equus caballus chromosome [ECA] 7: 89,601,935-94,647,192) was above the suggestive GWS threshold. Two inferred haplotypes in this region demonstrated significant differences (P<0.001) between cases and controls, with the most frequent haplotype resulting in a significantly increased risk of DLC. MAIN LIMITATIONS: Small sample size as a result of stringent phenotyping protocols. CONCLUSIONS: The current study highlights a candidate genomic region on ECA7 as potentially important with regard to the manifestation of DLC. Further exploration of this region and the genes included within it will bring veterinarians and researchers closer to fully understanding the biological mechanisms underlying DLC in horses.

Competition lifespan survival analysis in the Norwegian-Swedish Coldblooded Trotter racehorse.

BACKGROUND: Studies of large racing populations have established clear differences in the career profile of stallions, mares and geldings. Multiple studies have also demonstrated positive effects on racing careers for horses that commence racing at a younger age. However, the applicability of these studies to small, native racing populations is unknown and warrants investigation. OBJECTIVES: To provide summary statistics for performance outcomes for the Norwegian-Swedish Coldblooded Trotter and to document and provide evidence on the current differences in racing careers across age at first start groups, sexes and country of birth. STUDY DESIGN: Cohort study. METHODS: Performance data on the population of Norwegian-Swedish Coldblooded Trotters born between 2000 and 2009 (n = 14,548) were acquired and used to describe and compare the racing careers of this native racing breed. Career length, career starts and career earnings were evaluated. Kaplan-Meier survival curves, stratified by sex, age group and country of birth were produced for career length. A Cox proportional hazards model was fitted to assess factors influencing the hazard rate of retirement from racing. RESULTS: Log-rank test for equality of career length survival functions showed significant differences (P<0.001) across sexes, countries of birth and age at first start groups. An increased age at first start increased the hazard rate of retirement from racing. MAIN LIMITATIONS: Racing career length is influenced by many factors. While this study accounts for some of the known influences on career length, the analysis would be strengthened by the inclusion of additional information, such as trainer and reasons for retirement. CONCLUSIONS: The results of this study suggest no adverse effects to the racing of young Norwegian-Swedish Coldblooded trotters. The study also establishes significant differences in career length based on sex and identifies that these differences are the opposite of what is seen in many other horse racing breeds. The Summary is available in Spanish - see Supporting Information.

To pace or not to pace: a pilot study of four- and five-gaited Icelandic horses homozygous for the DMRT3 'Gait Keeper' mutation.

The Icelandic horse is a breed known mainly for its ability to perform the ambling four-beat gait 'tölt' and the lateral two-beat gait pace. The natural ability of the breed to perform these alternative gaits is highly desired by breeders. Therefore, the discovery that a nonsense mutation (C>A) in the DMRT3 gene was the main genetic factor for horses' ability to perform gaits in addition to walk, trot and canter was of great interest. Although several studies have demonstrated that homozygosity for the DMRT3 mutation is important for the ability to pace, only about 70% of the homozygous mutant (AA) Icelandic horses are reported to pace. The aim of the study was to genetically compare four- and five-gaited (i.e. horses with and without the ability to pace) AA Icelandic horses by performing a genome-wide association (GWA) analysis. All horses (n = 55) were genotyped on the 670K Axiom Equine Genotyping Array, and a GWA analysis was performed using the genabel package in r. No SNP demonstrated genome-wide significance, implying that the ability to pace goes beyond the presence of a single gene variant. Despite its limitations, the current study provides additional information regarding the genetic complexity of pacing ability in horses. However, to fully understand the genetic differences between four- and five-gaited AA horses, additional studies with larger sample materials and consistent phenotyping are needed.

The evolutionary history of the DMRT3 'Gait keeper' haplotype.

A previous study revealed a strong association between the DMRT3:Ser301STOP mutation in horses and alternate gaits as well as performance in harness racing. Several follow-up studies have confirmed a high frequency of the mutation in gaited horse breeds and an effect on gait quality. The aim of this study was to determine when and where the mutation arose, to identify additional potential causal mutations and to determine the coalescence time for contemporary haplotypes carrying the stop mutation. We utilized sequences from 89 horses representing 26 breeds to identify 102 SNPs encompassing the DMRT3 gene that are in strong linkage disequilibrium with the stop mutation. These 102 SNPs were genotyped in an additional 382 horses representing 72 breeds, and we identified 14 unique haplotypes. The results provided conclusive evidence that DMRT3:Ser301STOP is causal, as no other sequence polymorphisms showed an equally strong association to locomotion traits. The low sequence diversity among mutant chromosomes demonstrated that they must have diverged from a common ancestral sequence within the last 10 000 years. Thus, the mutation occurred either just before domestication or more likely some time after domestication and then spread across the world as a result of selection on locomotion traits.