Anal Furunculosis Research Collaboration
of the research study:
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.
of the research study:
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.
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.
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,
firstname.lastname@example.org in order to obtain a copy of the import
licence to be included with each sample.
Participants in the
L. J. Kennedy, W. E. R. Ollier, Centre
for Integrated Genomic Medical Research, University
of Manchester, Manchester, UK
A. House, B. Catchpole, Royal
University of London,
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,
Lorna J. Kennedy
Centre for Integrated Genomic Medical Research
University of Manchester
Manchester M13 9PT
Tel: +44 161 275 7316
Fax: +44 161 275 1617