Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds

PLoS One. 2014 Nov 13;9(11):e112755. doi: 10.1371/journal.pone.0112755. eCollection 2014.

Abstract

Necrotizing meningoencephalitis (NME) affects toy and small breed dogs causing progressive, often fatal, inflammation and necrosis in the brain. Genetic risk loci for NME previously were identified in pug dogs, particularly associated with the dog leukocyte antigen (DLA) class II complex on chromosome 12, but have not been investigated in other susceptible breeds. We sought to evaluate Maltese and Chihuahua dogs, in addition to pug dogs, to identify novel or shared genetic risk factors for NME development. Genome-wide association testing of single nucleotide polymorphisms (SNPs) in Maltese dogs with NME identified 2 regions of genome-wide significance on chromosomes 4 (chr4:74522353T>A, p = 8.1×10-7) and 15 (chr15:53338796A>G, p = 1.5×10-7). Haplotype analysis and fine-mapping suggests that ILR7 and FBXW7, respectively, both important for regulation of immune system function, could be the underlying associated genes. Further evaluation of these regions and the previously identified DLA II locus across all three breeds, revealed an enrichment of nominal significant SNPs associated with chromosome 15 in pug dogs and DLA II in Maltese and Chihuahua dogs. Meta-analysis confirmed effect sizes the same direction in all three breeds for both the chromosome 15 and DLA II loci (p = 8.6×10-11 and p = 2.5×10-7, respectively). This suggests a shared genetic background exists between all breeds and confers susceptibility to NME, but effect sizes might be different among breeds. In conclusion, we identified the first genetic risk factors for NME development in the Maltese, chromosome 4 and chromosome 15, and provide evidence for a shared genetic risk between breeds associated with chromosome 15 and DLA II. Last, DLA II and IL7R both have been implicated in human inflammatory diseases of the central nervous system such as multiple sclerosis, suggesting that similar pharmacotherapeutic targets across species should be investigated.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Breeding
  • Chromosomes, Mammalian
  • Dog Diseases / genetics*
  • Dog Diseases / immunology
  • Dog Diseases / pathology
  • Dogs
  • F-Box Proteins / genetics*
  • F-Box Proteins / immunology
  • Female
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Haplotypes
  • Histocompatibility Antigens Class II / genetics*
  • Histocompatibility Antigens Class II / immunology
  • Male
  • Meningoencephalitis / genetics*
  • Meningoencephalitis / immunology
  • Meningoencephalitis / pathology
  • Meningoencephalitis / veterinary*
  • Polymorphism, Single Nucleotide
  • Receptors, Interleukin-7 / genetics*
  • Receptors, Interleukin-7 / immunology
  • Risk Factors

Substances

  • F-Box Proteins
  • Histocompatibility Antigens Class II
  • Receptors, Interleukin-7

Grants and funding

This study was supported by the American Kennel Club Canine Health Foundation (01455) (http://www.akcchf.org/) and the Morris Animal Foundation (D10CA-406) (http://www.morrisanimalfoundation.org/). IS is a postdoctoral fellow of the FWO-Vlaanderen (http://www.fwo.be/en/). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.