NEW!!*** New study on the genetics of Shar-Pei Autoinflammatory Disease (SPAID)
Familial Shar-Pei Fever (FSF) is disease as part of the autoinflammatory complex called „SPAID“ (Shar-Pei Autoinflammatory Disease). Clinical signs comprise high fever, inflammation of the ears, joints and skin. Affected dogs frequently show only some of these symptoms. The high fever episodes, similar as seen in human familial Mediterranial fever, are often accompanied by swoolen hooks and/or a swollen mouth. It is assumed that these recurrent fever episodes are cause for secundary amyloidosis (AA-amyloidosis). However, amyloidosis can also be the result of persistent infections, inflammation or neoplastic diseases, which lead to chronic accumulation of malformed protein (amyloid) in the kidney or heart, liver, pancreas, adrenal gland or intestinal submucosa and subsequent damage in the storage locations. In Shar-Pei, it is reported that most of the amyloid can be found in the kidney marrow (medullar interstitium), whereas other dog breed are reported to accumulate amyloid in the cortx of the kidney. Affected dogs show unspecific signs such as anorexia, nausea, lethargia, and weight loss.
The genetic cause of SPAID in Shar-Pei was identified in a resarch project at the former Institute for Animal Breeding and Genetics (nowadays: Institute for Animal Genomics) supported by Shar-Pei breeders and breeding organisations (1. Deutscher Shar Pei Club 1985 e.V., Shar Pei Freunde Deutschland and World of Shar Pei). A totally new finding was made: For the first time, a significant factor and trigger for the disease was found (siehe Metzger et al.). The identified mutation was apparently genetically linked to the locus harbouring a copy number variation, which has been associated with the variation in the degree of wrinkles in Shar-Pei dogs. This resulted in earlier times in mixing up wrinkle- and SPAID-associated genetics.
Currently, the research group is trying to find out more about the functional consequences of the mutation. Human medical research already shows that single mutations can cause severe autoimmune diseases. However, the severity of the symptoms is highly variable based on what we know from patient reports. People with the same disease mutations apparently reveal different clinical manifestations- from minimal symptoms to severe diseases. This is partly due to the involvement of different organ systems affected by inflammatory processes. It can be assumed that it is a similar situation in the disease complex of SPAID in Shar-Pei. So, can we find protective and risk factors involved in SPAID? The answer for this question can be probably found in the genome of the dog, besides other factors like environmental factors of food related effects.
Would you like to support our study? We are looking for participants for our study, who own a purebreed Shar-Pei older than 6 years, which can be assigned to the following groups:
- Group 1: SPAID/SPAID without symptoms (did not show any signs of fever, arthritis, recurrent or long-lasting eye and ear infections or dermatitis)
- Group 2: SPAID/SPAID with severe symptoms (>3 bouts of fever with or without SPAID-signs)
- Group 3: N/SPAID without symptoms (did not show any signs of fever, arthritis, recurrent or long-lasting eye and ear infections or dermatitis)
- Group 4: N/SPAID with severe symptoms (>3 bouts of fever with or without SPAID-signs)
- Group 5: N/N (with or without symptoms)
Taking part in this study is of course free of charge.
How to take part in this study?
Step 1: Please send an e-mail to ABGLab@tiho-hannover.de to ask for a SPAID-Transkriptome test free of charge. Please name the study group (Gruppe 1-5, s.o.) to which your dog can be assigned, the SPAID-test result, date of birth of the dog and pre-breed yes/no. Please add your address, so that we can ship you the necessary items.
Step 2: We are going to send you a special tube with a solution. At your next visit of your vet for diagnostic purposes (like geriatric profiles etc.) please ask for saving 500 µl of the leftover blood sample in our special tube. Please close the tube, mix blood and reagent, and ship it at room temp to us (DO NOT cool down the tube!!!)
Step 3: Please send us the following (no cooling of the sample!!):
- our special tube filled with blood
- filled Questionnaire (feel free to send it by e-mail: ABGLab@tiho-hannover.de)
- Coy of the pedigree of your dog (feel free to send it by e-mail: ABGLab@tiho-hannover.de)
- SPAID-test result (if it is not already available with us)
What are the benefits of taking part in this study? You are going to support the scientific progress and the initiative to learn more about the genetics of SPAID. Furthermore, after this study is finalized, we offer you a SPAID-transcriptome profile for you dog. A genetic DNA test for SPAID cannot be offered based on the samples used in this study.
I already send blood samples for the previous study. Does this support also the new study? Unfortunately, we cannot obtain high quality RNA from the frozen blood obtained for the previous study. Therefore, you would need to send again a sample - this time in the special tube- to contribute to currenty study.
My residency is outside from Germany- can I still contribute? Yes, you are absolutely welcome. But please make sure that you check the rules for shipping samples to Germany. We will not take any responsibilities for missing paperwork, wrong labelling or wrongly packed samples.
How long will the study take? This study is planned for a timeframe of 6 months (April to September 2024). Participanty of this study are asked to send samples within this time frame. Samples sent after this date cannot contribute to this study anymore. In addition, we would like to point out that the number of participants in this study is limited to 100 Shar Pei for cost reasons. For that reason we reserve the right to reject participants if the necessary number of samples per group is reached.
