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Shar-Pei Autoinflammatory Disease (SPAID)

Shar-Pei Autoinflammatory Disease (SPAID) is a heritable syndrome defined by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. SPAID is characterized by five signs of inflammation, Familial Shar-Pei Fever (FSF), Arthritis, Vesicular Hyaluronosis, Otitis and Amyloidosis.

Testing

The SPAID test identifies Shar-Pei or Shar-Pei crosses most likely to be affected by SPAID during their lifetime. The assay provides an estimate of an individual’s increased risk to develop clinical signs of SPAID. The assay may be used to determine the genotype of a dog of breeding age to inform decisions about potential breeding partners aiming to decrease the number of offspring at increased risk of experiencing SPAID.

The result can be used by owners two-fold: i) as a health tool to suggest a dog should be watched more carefully for signs of SPAID and ii) as a breeding tool with the aim of reducing the presence of SPAID in the worldwide Shar-Pei population.

The test is appropriate for Shar-Pei or Shar-Pei crosses only.

GroupSPAID Test ResultOutcomeExplanation
Non CarrierCNV = 2
Alleles = 1 & 1		No expected risk for SPAID
  • Allele 5, associated with SPAID, not detected.
  • Non-carrier for allele 5 (i.e., carrying alleles 1 & 1; CNV=2) may have no increased risk for SPAID.
Single CarrierCNV = 6
Alleles = 1 & 5		Potential risk for SPAID
  • One copy of allele 5, associated with SPAID, detected.
  • Dog with one copy of allele 5 (i.e., carrying alleles 1 & 5; CNV=6) has four times more risk for SPAID than a non-carrier.
  • If bred with another single carrier, there is 25% chance for offspring being a double carrier for allele 5.
Double CarrierCNV = 10
Alleles = 5 & 5		Prone for SPAID
  • Two copies of the allele 5, associated with SPAID, detected.
  • Dog with two copies of allele 5 (i.e., carrying alleles 5 & 5; CNV=10) has eight times more risk than a non-carrier and is prone for SPAID in its lifetime.

Shar-Pei Autoinflammatory Disease (SPAID) encompasses multiple signs of inflammation. The clinical disease status of a dog is a product of the genetic marker tested here and the effect of the dog’s environment. The results of this test cannot exclude that the dog assayed carries other mutations that can cause inflammatory disease in Shar-Pei.

A Heritable Disease Linked to the Distinctive Appearance of Shar-Pei

It has been shown that the genetic variant linked to SPAID is also associated with the increased expression of Hyaluronan Synthase 2 (HAS2), the driver of long-chain hyaluronan (HA) synthesis. The elevated expression of HAS2 results in hereditary cutaneous hyaluronanosis, and the breed's heavily thickened and wrinkled skin.

It is hypothesized that the recurrent inflammation experienced by some Shar-Pei is an effect of the over production and subsequent degradation of abundant high molecular weight HA, via natural homeostasis and other numerous environmental factors. The resultant low molecular weight HA acts as a danger associated molecular pattern "DAMP" and triggers the release of inflammatory interleukins.

Submissions

Submissions must be made through our online portal using the general submission option. We will no longer be able to accept the SPAID paper form or a direct submission from a pet owner.

References

  • Olsson M et al. 2016. Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease. BMC Genomics. 17(1):299.
  • Olsson M et al. 2013. Thorough investigation of a canine autoinflammatory disease (AID) confirms one main risk locus and suggests a modifier locus for amyloidosis. PLoS One. 8(10):e75242.
  • Olsson M et al. 2011. A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs. PLoS Genet. 7(3):e1001332.