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.
The SPAID test identifies Shar-Pei most likely to be affected by SPAID during their lifetime. The assay provides an estimate of an individual’s increased risk to develop SPAID symptoms. 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 symptoms.
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.
|Group||SPAID Test Result||Outcome||Explanation|
CNV = 2
Alleles = 1 & 1
|Not expected to suffer SPAID||
CNV = 6
Alleles = 1 & 5
|Potential to suffer SPAID||
CNV = 10
Alleles = 5 & 5
|Most likely to suffer SPAID||
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.
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. This is the only available test for SPAID. The results of this test cannot exclude that the dog assayed carries other mutations that can cause inflammatory disease in Shar-Pei.
Required submission and animal history form (see links below) and payment have to be submitted with the sample. Payments can be made by check or credit card. Samples submitted without payment or complete information will not be tested.
Turn-around time will vary depending on the number of samples received. Please see the links below for sample submission instructions and forms:
- 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.