Anal Furunculosis Research Collaboration

 Technical description of the research study:
Anal furunculosis (AF) is a chronic, progressive inflammatory disease of the perianal tissues most frequently affecting middle-aged or older German Shepherd dogs (GSD). Because this breed accounts for over 80% of all reported cases, there is likely to be a genetic association with disease susceptibility. Although there are some similarities with perianal fistulation that occurs in human Crohn's disease, the aetiology and pathogenesis of AF are still poorly understood. Recent research has suggested an immune-mediated aetiology, and evidence for this has been further provided by clinical responses to the immunosuppressive drug cyclosporin. The aim of the current study was to investigate canine major histocompatibility complex immune response genes. Dog leucocyte antigen class II alleles and haplotypes were characterised by sequence-based typing of 107 GSD affected with AF and 196 breed-matched controls collected in the UK. A highly significant association of DLA-DRB1*00101 with the presence of AF was observed (OR = 5.01, CI = 2.7-9.3, P < 0.00000001). This association was confirmed in a second cohort of GSD collected in Finland. Homozygosity for this allele is associated with an earlier disease onset.

 Laymen’s description of the research study:
Our research is focussed on identifying  genes involved in susceptibility to canine anal furunculosis. We have already identified one set of genes (called the Major Histocompatibility Complex MHC) that are associated with susceptibility, but  it is clear that there are other genes involved. This information was based on German Shepherd dogs, and it would be really interesting to see if the same MHC association is seen in Leonbergers  since they are also known to occasionally suffer from this condition.

We have also performed a genome wide association study, and identified
several other regions of the genome that are associated with anal furunculosis in GSD. We now need to confirm these regions, and it would make the study much more powerful if we can confirm them in a second breed. All we need is a small amount of blood to extract DNA from.

Initially we would like as many confirmed cases as possible, plus any very close relatives that are unaffected. We would also like 20-30 unaffecteds that do not have siblings or  parents with the disease. But basically any samples will be welcome, so long as we can get the relevant information we need. 

Please note, these samples are for research purposes only. This is not a diagnostic test. No results will be available, as a DNA marker test for this condition has not as yet been developed. All details submitted will be kept in strictest confidence and at no point will the registered names of any participating dogs be made public.

Blood sampling requirements:
1-2ml of blood collected in an EDTA tube, which can be posted by first class delivery at room temperature to the address below. A complete pedigree (at least 3 generations) along with the registered name of the dog must accompany each sample. Please include the Phenotype form and signed permission to include samples in the UK Companion Animal DNA Archive. These forms can be obtained by emailing Lorna Kennedy directly. Also, before sending samples from abroad, please
email  in order to obtain a copy of the import licence to be included with each sample.  

Participants in the research:
L. J. Kennedy, W. E. R. Ollier, Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, UK .
A. House, B. Catchpole, Royal Veterinary College, University of London, Hertfordshire, UK
K. Kyöstilä, H. Lohi, Biomedicum Helsinki, Department of Medical Genetics, Program in Molecular Medicine, University of Helsinki, and  Folkhälsan Institute of Genetics, University of Helsinki, Finland.
M. J. Day, School of Clinical Veterinary Science, University of Bristol,
Bristol, UK

Correspondence to:
Dr Lorna J. Kennedy
Centre for Integrated Genomic Medical Research
University of Manchester
Stopford Building
Oxford Road
Manchester M13 9PT
Tel: +44 161 275 7316
Fax: +44 161 275 1617