Genetics of Equine Insect Bite Hypersensitivity and Genetic Diversity in Horses

Genetic variation contributing to the phenotypic variation was utilized in this thesis to understand the genetic background of a complex trait IBH, and to understand genetic diversity and relationships between various horse populations. IBH is the most common skin allergic disorder in horses, caused by bites of midges, predominantly Culicoides species. It affects various horse breeds worldwide. With no effective treatment, IBH degrades horse health and causes economic loss. In this thesis, we used genome-wide SNPs to identify regions contributing to genetic variance of IBH susceptibility. We also investigated influence of increased number of horses and dense SNPs on identification of genomic regions associated to IBH susceptibility. Multiple genomic regions with small effects were observed in Studies I-III. Interesting genomic regions in the Icelandic horse population across the studies I and II, was observed on chromosomes 1, 7, 10, 15 and 17. The percentage of the genetic variance explained by top ten windows increased from 3.07% (Study I) to 6.56% (Study II). Novel genomic regions were identified when number of Icelandic horses was increased in Study II. Using dense SNPs on the Exmoor pony population we identified novel genomic regions, on chr 8, associated to IBH susceptibility, though with borderline significance. In Study IV, pre-conceived understanding about evolutionary history of horse populations matched obtained results from investigation of genetic relationships within Dutch warmblood populations (pairwise mean FST ≤ 0.070), and within pony-like populations (pairwise mean FST ≤ 0.078). Horse populations with similar genetic background might share similar genetic components for IBH susceptibility. The Friesian horse population had lowest diversity (mean inbreeding coefficients: fi: 30.4%, fiROH= 22.2%) in Study IV and was genetically distinct (FST ranged from 0.13 to 0.17). This might be a result of a history of several population bottlenecks and selection on a closed breeding scheme. Low diversity in immunity related genes, observed in the Friesian horse population, might have led to increased prevalence of IBH. Similarly, low susceptibility of IBH in a warmblood population, KWPN sport horse population might be due to high genetic diversity ( i f =-6.9%). High genetic diversity in KWPN sport horse population might be a result of an open breeding scheme and interbreeding with other warmblood populations.