Autoimmunity
Genetic Diversity Measures
Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed. Belanger, J.M. et.al. Lay summary.
In purebred dogs, limited genetic diversity, popular sire effects, and common ancestry can lead to elevated levels of inbreeding and homozygosity. Inbreeding and a high degree of homozygosity are associated with a reduction in health and overall fitness. Historically, breeding goals have focused on maintaining breed-defining characteristics and removing deleterious traits. These goals may increase the level of homozygosity, thus reducing heterozygosity. To maximize genetic diversity, that is heterozygosity, it has been suggested that breeding decisions should include measures of genetic diversity. In the past, breeders utilized pedigree relatedness to balance mate choice for desirable traits while avoiding excessive inbreeding. Now, commercial companies offer genetic tests for inbreeding based upon single nucleotide polymorphisms (SNPs) in array analyses. This leads to the question of what are the best measures of genetic diversity?
Measures of genetic diversity rely upon estimates of homozygosity without consideration of whether the homozygosity is desirable or undesirable or if heterozygosity has a functional impact. Pedigree coefficients of inbreeding have been the classical approach yet they are inadequate unless based upon the entire population. Homozygosity measures based upon pedigree analyses (n = 11,898), SNP array data (n = 244), and whole genome sequencing (n = 23) were compared in the Bearded Collie, as well as a comparison of SNP array data to a pedigree cohort (n = 5042) and a mixed-breed cohort (n = 1171).
Conclusions: Using typical DNA-based measures reflect only a single individual and not the population thereby failing to account for regions of homozygosity that reflect ancestral breeding, domestication history, breed-defining regions, or regions positively selected for health traits. Incorporating measures of genetic diversity into dog breeding schemes is meritorious. However, until measures of diversity can distinguish between breed-defining homozygosity and homozygosity associated with positive health alleles, the measures to use as selection tools need refinement before their widespread implementation.
Autoimmunity, General
- Major histocompatibility complex and autoimmunity in dogs. Steve Goodman, 2010, AKC CHF.
- The complexity of autoimmunity. Jo Tucker, p 15
- Autoimmune disease, what is it? Linda Aronson, DVM. Diseases. Causes. This article was presented at the BCCC Specialty, August 1999. It contains a description of the mechanism of what an autoimmune disease. There is a discussion of cause of A/I disease and a section on vaccination.
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- Bearded Collies and autoimmune disease. Linda Aronson, DVM. Presenting signs, tests and treatment. It details both the signs of 10 autoimmune diseases and the tests used to make a diagnosis. This is helpful for understanding tests which your veterinarian may order on your dog to establish a diagnosis.
- Stress, drugs, and immunity. Linda Aronson, DVM, p 7
- What’s up doc? Linda Aronson, DVM. Beardie Bulletin, August 1996. Common and uncommon presentations (physical findings) of autoimmune diseases in Bearded Collies.
- Immunosuppression Protocol. Linda Aronson, DVM. 2019
Addison’s Disease
- Research Link – Dr. Anita Oberbauer’s lab
- Obtain sample kit or submit updated health record for already submitted sample
- Janelle Belanger – project contact (jmbelanger@ucdavis.edu)
- Diagnosing Addison’s: helping your vet to not overlook it. Carol Lang, Beardie Bulletin, May 1987.
- Atypical Addison’s in the dog. A Retrospective Survey of 14 Cases. Sadek, D and Schaer, M. J Am Anim Hosp Assoc 1996;32:159-
63. - Kidney disease, or is it? Jo Tucker, p2
- Addison’s disease, a personal perspective. Karen Miller-Stebbings, Beardie Bulletin, Nov 1996.
- Addison’s update, Linda Aronson, DVM
- Addison’s pathophysiology, Linda Aronson, DVM
- Yes, we loved Tegan. Jean Kennedy, Beardie Bulletin, August 1988
- Katie’s story. Beardie Bulletin, May 1999
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- Canine Genetics and Epidemology, 2019. DLA class II risk haplotypes for autoimmune diseases in the Bearded Collie offer insight to autoimmunity signatures across dog breeds. Gershony, et.al.
- Genetic Characterization of Addison’s Disease in Bearded Collies. Gershony, et.al. BMC Genonmics, 2020
- A Retrospective Study of Dogs with Atypical Hypoadrenocorticism:A Diagnostic Cut-off or Continuum? (2017). 49 dogs had glucocorticoids deficiency and normal sodium:potassium ratios at the time of diagnosis. They were classified as having “atypical hypoadrenocorticism”.
- Addison’s case study articles from BeaCon’s newsletters
Arthritis
- Arthritis, Linda Aronson, DVM. Discussion of diagnosis; section on autoimmune causes of arthritis.
- Canine Immune Mediated Polyarthritis, M McKenna, 2020.
Autoimmune Hemolytic Anemia (AIHA)
- Autoimmune Hemolytic Anemia, Jo Tucker, p 14
- Evan’s Syndrome (AIHA and Idiopathic Autoimmune Thrombocytopenia (ITP)), Joanne Johnson. Case study.
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- AIHA in dogs. VCA Animal Hospitals
- AIHA case study articles from BeaCon’s newsletter
Autoimmune Hypothyroidism
- Review of function of thyroid gland, signs of hypothyroidism, and diagnosis. Linda Aronson, DVM
- Hypothyroidism and Aggression. Jean Dodds, DVM (see p7 for aggression)
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- What Is Hypothyroidism? OFA article on thyroid status based on OFA thyroid panel testing: normal, equivocal, autoimmune thyroiditis, idiopathic reduced thyroid function. Autoimmune thyroiditis is the most common cause of primary hypothyroidism in dogs. The disease has variable onset, but tends to clinically manifest itself at 2 to 5 years of age. Dogs may be clinically normal for years, only to become hypothyroid at a later date. The marker for autoimmune thyroiditis, thyroglobulin autoantibody formation, usually occurs prior to the occurrence of clinical signs. Therefore, periodic retesting is recommended.
- OFA Thyroid testing
- CHIC certification – # 345
- Breed OFA statistics (Jan 2023) – 1,162 tests (ranks 98)
- Normal – # 1022 (88%)
- Autoimmune – # 10 (0.9%)
- Idiopathic – # 6 (0.5%)
- Equivocal – # 124 (10.7%)
Symmetrical Lupoid Onychodystrophy (SLO)
- Symmetrical Lupoid Onychodystrophy in Dogs. A Retrospective Analysis of 18 Cases (1989-
1993)By: Scott, D.W., DVM, Rousselle, S, DVM, and Miller, W.H., VMD, Diplomate ACVD. From the Departments of Clinical Sciences (Scott, Miller) and Pathology (Rousselle), College of Veterinary Medicine, Cornell University, Ithaca, NewYork 14853. JAAHA, May/June 1995, Vol. 31, pp. 192- 201. - Introduction to Terms used in Finnish Study of SLO (above). Read this first to help understand the article. Elizabeth Coolidge-
Stolz, MD - Finnish Study of SLO in Bearded Collies and Major Histocompatibility Research.
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- SLO and Genetic Diversity, Elsa Sell, MD
- Toe amputation for tissue diagnosis of SLO, a case study. Judy Howard and Elizabeth Coolidge-Stolz, MD, (p 12)
- Research publications and SLO case studies in BeaCon newsletter
- BeaCon SLO survey (2010)
- BeaCon SLO survey (2018)
- Fall 2013 Newsletter
- Three case studies
- Article on survey results
- Article about SLO family pedigrees
- Gershony, et.al. DLA class II risk haplotypes for autoimmune diseases in the bearded collie offer insight to autoimmunity signatures across dog breeds. Gershony, L.C., et. al. Canine Genet. Epidemiology
- Gershony, et.al. Genes, vol 10, 2019. Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie. Summary of this article Gershony, et.al.
- Gershony, et.al. Whole Genome Sequencing Reveals Multiple Linked Genetic Variants on Canine chromosome 12 Associated with Risk for Symmetrical Lupoid Onychodystrophy (SLO) in the Bearded Collie. August 2021, 112 (8):1265 DOI:10.3390/genes1208126
Systemic Lupus Erythematosus (SLE)
- SLE, Jo Tucker, (p 20)
- SLE in Dogs, petmd
- Multiple loci for a canine SLE-related disease complex in Nova Scotia Duck Tolling Retrievers (abstract).
- Autosomal recessive exfoliative chronic lupus erythematosus (ECLE) in German Shorthaired Pointers, Genes (2020)
- Genetic study of SLE in humans, Cells (2019)