Oberbauer A, Bell J, Belanger J, Famula T. Genetic evaluation of Addison's disease in the Portuguese water dog. BMC Vet Res. 2006;2(1):15.
CAS
PubMed
PubMed Central
Google Scholar
Boag AM, Catchpole B. A review of the genetics of Hypoadrenocorticism. Top Companion Anim Med. 2014;29(4):96–101.
PubMed
Google Scholar
Bellumori TP, Famula TR, Bannasch DL, Belanger JM, Oberbauer AM. Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc. 2013;242(11):1549–55.
PubMed
Google Scholar
Decôme M, Blais M-C. Prevalence and clinical features of hypoadrenocorticism in great Pyrenees dogs in a referred population: 11 cases. Can Vet J= La revue veterinaire canadienne. 2017;58(10):1093–9.
Google Scholar
Hanson JM, Tengvall K, Bonnett BN, Hedhammar Å. Naturally occurring adrenocortical insufficiency – an epidemiological study based on a Swedish-insured dog population of 525,028 dogs. J Vet Intern Med. 2016;30(1):76–84.
CAS
PubMed
Google Scholar
Wiles BM, Llewellyn-Zaidi AM, Evans KM, O'Neill DG, Lewis TW. Large-scale survey to estimate the prevalence of disorders for 192 kennel Club registered breeds. Canine Genet Epidemiol. 2017;4:8.
CAS
PubMed
PubMed Central
Google Scholar
Klein SC, Peterson ME. Canine hypoadrenocorticism: part I, vol. 51; 2010.
Google Scholar
Charmandari E, Nicolaides NC, Chrousos GP. Adrenal insufficiency. Lancet. 2014;383(9935):2152–67.
CAS
PubMed
Google Scholar
Massey J, Boag A, Short AD, Scholey RA, Henthorn PS, Littman MP, et al. MHC class II association study in eight breeds of dog with hypoadrenocorticism. Immunogenetics. 2013;65(4):291–7.
CAS
PubMed
Google Scholar
Short AD, Boag A, Catchpole B, Kennedy LJ, Massey J, Rothwell S, et al. A candidate gene analysis of canine Hypoadrenocorticism in 3 dog breeds. J Hered. 2013;104(6):807–20.
CAS
PubMed
Google Scholar
Burkitt JM. Chapter 76 - Hypoadrenocorticism. In: Silverstein DC, Hopper K, editors. Small animal critical care medicine. Saint Louis: W.B. Saunders; 2009. p. 321–4.
Google Scholar
Van Lanen K, Sande A. Canine Hypoadrenocorticism: pathogenesis, diagnosis, and treatment. Top Companion Anim Med. 2014;29(4):88–95.
PubMed
Google Scholar
Hughes AM, Nelson RW, Famula TR, Bannasch DL. Clinical features and heritability of hypoadrenocorticism in Nova Scotia duck tolling retrievers: 25 cases (1994-2006). J Am Vet Med Assoc. 2007;231(3):407–12.
PubMed
Google Scholar
Chase K, Sargan D, Miller K, Ostrander EA, Lark KG. Understanding the genetics of autoimmune disease: two loci that regulate late onset Addison's disease in Portuguese water dogs. Int J Immunogenet. 2006;33(3):179–84.
CAS
PubMed
PubMed Central
Google Scholar
Famula TR, Belanger JM, Oberbauer AM. Heritability and complex segregation analysis of hypoadrenocorticism in the standard poodle. J Small Anim Pract. 2003;44(1):8–12.
CAS
PubMed
Google Scholar
Oberbauer AM, Benemann KS, Belanger JM, Wagner DR, Ward JH, Famula TR. Inheritance of hypoadrenocorticism in bearded collies. Am J Vet Res. 2002;63(5):643–7.
PubMed
Google Scholar
Peterson ME, Kintzer PP, Kass PH. Pretreatment clinical and laboratory findings in dogs with hypoadrenocorticism: 225 cases (1979-1993). J Am Vet Med Assoc. 1996;208(1):85–91.
CAS
PubMed
Google Scholar
Brown E, Young A, Wolf Z, Wade CM, Hughes A, Foreman O, et al. Juvenile Hypoadrenocorticism in the Nova Scotia duck tolling retriever: a recessive monogenic autoimmune disease. Denver: American College of Veterinary Internal Medicine Forum: 2016; 2016. p. 1407–519. Journal of Veterinary Internal Medicine.
Google Scholar
Mitchell AL, Pearce SHS. Autoimmune Addison disease: pathophysiology and genetic complexity. Nat Rev Endocrinol. 2012;8(5):306–16.
CAS
PubMed
Google Scholar
Boag AM, Christie MR, McLaughlin KA, Syme HM, Graham P, Catchpole B. Autoantibodies against cytochrome P450 side-chain cleavage enzyme in dogs (Canis lupus familiaris) affected with Hypoadrenocorticism (Addison’s disease). PLoS One. 2015;10(11):e0143458.
PubMed
PubMed Central
Google Scholar
Soderbergh A, Winqvist O, Norheim I, Rorsman F, Husebye ES, Dolva O, et al. Adrenal autoantibodies and organ-specific autoimmunity in patients with Addison's disease. Clin Endocrinol (Oxf). 1996;45(4):453–60.
CAS
Google Scholar
Friedenberg SG, Brown DL, Meurs KM, Law JM. Lymphocyte subsets in the adrenal glands of dogs with primary Hypoadrenocorticism. Vet Pathol. 2018;55(1):177–81.
CAS
PubMed
Google Scholar
Boag AM, McLaughlin K, Christie M, Graham P, Syme H, Catchpole B. Analysis of P450 side-chain cleavage enzyme autoantibodies in dogs affected with hypoadrenocorticism. (2014 ACVIM forum research abstracts program). J Vet Intern Med. 2014;28(3):976–1134.
Google Scholar
Betterle C, Morlin L. Autoimmune Addison's disease. Endocr Dev. 2011;20:161–72.
CAS
PubMed
Google Scholar
Løvås K, Husebye ES. Addison's disease. Lancet. 2005;365(9476):2058–61.
PubMed
Google Scholar
Skinningsrud B, Husebye ES, Pearce SH, McDonald DO, Brandal K, Wolff AB, et al. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. J Clin Endocrinol Metab. 2008;93(9):3310–7.
CAS
PubMed
Google Scholar
Friedenberg SG, Lunn KF, Meurs KM. Evaluation of the genetic basis of primary hypoadrenocorticism in standard poodles using SNP array genotyping and whole-genome sequencing. Mamm Genome. 2017;28(1–2):56–65.
CAS
PubMed
Google Scholar
Boag AM, Short A, Kennedy LJ, Syme H, Graham PA, Catchpole B. Polymorphisms in the CTLA4 promoter sequence are associated with canine hypoadrenocorticism. Canine Med Genet. 2020;7(1):2.
PubMed
PubMed Central
Google Scholar
Gershony LC, Belanger JM, Short AD, Le M, Hytönen MK, Lohi H, et al. DLA class II risk haplotypes for autoimmune diseases in the bearded collie offer insight to autoimmunity signatures across dog breeds. Canine Genet Epidemiol. 2019;6(1):2.
PubMed
PubMed Central
Google Scholar
Hughes AM, Jokinen P, Bannasch DL, Lohi H, Oberbauer AM. Association of a dog leukocyte antigen class II haplotype with hypoadrenocorticism in Nova Scotia duck tolling retrievers. Tissue Antigens. 2010;75(6):684–90.
CAS
PubMed
Google Scholar
Treeful A, Rendahl A, Friedenberg S. Sex-specific DLA class II haplotypes are associated with primary hypoadrenocorticism in standard poodle dogs. J Immunol. 2019;202(1 Supplement):73.79.
Google Scholar
Short AD, Catchpole B, Boag AM, Kennedy LJ, Massey J, Rothwell S, Henthorn PS, Littman MP, Husebye E, Ollier B. Putative candidate genes for canine hypoadrenocorticism (Addison's disease) in multiple dog breeds Veterinary Record. 2014;175:430.
Bearded Collie Foundation for Health. BeaCon open health registry report; 2019.
Google Scholar
Karlsson EK, Sigurdsson S, Ivansson E, Thomas R, Elvers I, Wright J, et al. Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B. Genome Biol. 2013;14(12):R132.
PubMed
PubMed Central
Google Scholar
Baker LA, Kirkpatrick B, Rosa GJM, Gianola D, Valente B, Sumner JP, et al. Genome-wide association analysis in dogs implicates 99 loci as risk variants for anterior cruciate ligament rupture. PLoS One. 2017;12(4):e0173810.
PubMed
PubMed Central
Google Scholar
Hughes AM, Bannasch DL, Kellett K, Oberbauer AM. Examination of candidate genes for hypoadrenocorticism in Nova Scotia duck tolling retrievers. Vet J. 2011;187(2):212–6.
CAS
PubMed
Google Scholar
Lin JC, Ho W-H, Gurney A, Rosenthal A. The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axons. Nat Neurosci. 2003;6(12):1270–6.
CAS
PubMed
Google Scholar
Gao Y, Li S, Zhang Z, Yu X, Zheng J. The role of long non-coding RNAs in the pathogenesis of RA, SLE, and SS. Front Med (Lausanne). 2018;5:193.
Google Scholar
Fu Y, Tessneer KL, Li C, Gaffney PM. From association to mechanism in complex disease genetics: the role of the 3D genome. Arthritis Res Ther. 2018;20(1):216.
PubMed
PubMed Central
Google Scholar
Schaechinger TJ, Oliver D. Nonmammalian orthologs of prestin (SLC26A5) are electrogenic divalent/chloride anion exchangers. Proc Natl Acad Sci. 2007;104(18):7693–8.
CAS
PubMed
PubMed Central
Google Scholar
Tissir F, Goffinet AM. Reelin and brain development. Nat Rev Neurosci. 2003;4(6):496–505.
CAS
PubMed
Google Scholar
Greenjohnson JM, Zalcman S, Vriend CY, Nance DM, Greenberg AH. Suppressed T cell and macrophage function in the "Reeler" (rl/rl) mutant, a murine strain with elevated cerebellar norepinephrine concentration. Brain Behav Immun. 1995;9(1):47–60.
CAS
Google Scholar
Mohammad Hosseini A, Majidi J, Baradaran B, Yousefi M. Toll-like receptors in the pathogenesis of autoimmune diseases. Adv Pharm Bull. 2015;5(Suppl 1):605–14.
PubMed
PubMed Central
Google Scholar
Liu Y, Yin H, Zhao M, Lu Q. TLR2 and TLR4 in autoimmune diseases: a comprehensive review. Clin Rev Allergy Immunol. 2014;47(2):136–47.
CAS
PubMed
Google Scholar
Bayry J. TL1A in the inflammatory network in autoimmune diseases. Nat Rev Rheumatol. 2010;6(2):67–8.
CAS
PubMed
Google Scholar
Aiba, Yoshihiro, and Minoru Nakamura. The role of TL1A and DR3 in autoimmune and inflammatory diseases. Mediators Inflamm. 2013;2013(258164):9. https://doi.org/10.1155/2013/258164.
Zhang M, Liu S, Xu J, Lv S, Fan Y, Zhang Y, Zhang Y, Wu Y, Su Y, Yu H, Song S, He J, Li H. TNFSF15 polymorphisms are associated with graves' disease and graves' ophthalmopathy in a Han Chinese population. Curr Eye Res. 2020;45(7):888–95. https://doi.org/10.1080/02713683.2019.1705494. Epub 2019 Dec 27.
Mackay F, Kalled SL. TNF ligands and receptors in autoimmunity: an update. Curr Opin Immunol. 2002;14(6):783–90.
CAS
PubMed
Google Scholar
Patel RK, Mohan C. PI3K/AKT signaling and systemic autoimmunity. Immunol Res. 2005;31(1):47–55.
CAS
PubMed
Google Scholar
Merlo LMF, DuHadaway JB, Grabler S, Prendergast GC, Muller AJ, Mandik-Nayak L. IDO2 modulates T cell–dependent autoimmune responses through a B cell–intrinsic mechanism. J Immunol. 2016;196(11):4487.
CAS
PubMed
Google Scholar
Merlo LMF, Pigott E, DuHadaway JB, Grabler S, Metz R, Prendergast GC, et al. IDO2 is a critical mediator of autoantibody production and inflammatory pathogenesis in a mouse model of autoimmune arthritis. J Immunol. 2014;192(5):2082.
CAS
PubMed
Google Scholar
King SR, Bhangoo A, Stocco DM. Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia. Pediatr Adrenal Dis. 2011;20Karger Publishers:47–53.
CAS
Google Scholar
Theofilopoulos AN, Kono DH, Baccala R. The multiple pathways to autoimmunity. Nat Immunol. 2017;18:716.
CAS
PubMed
PubMed Central
Google Scholar
Bell JS. AKC Bearded Collie Stud Book & Genetic Diversity Analysis. In., vol. 2017http://www.beaconforhealth.org/Final_Stud_Book_Analysis%20with%20edit%20restrictions.pdf; 2017.
Google Scholar
Rincon G, Tengvall K, Belanger JM, Lagoutte L, Medrano JF, Andre C, et al. Comparison of buccal and blood-derived canine DNA, either native or whole genome amplified, for array-based genome-wide association studies. BMC Res Notes. 2011;4:226.
CAS
PubMed
PubMed Central
Google Scholar
Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. Second-generation PLINK: rising to the challenge of larger and richer datasets. GigaScience. 2015;4(1).
Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet. 2011;88(1):76–82.
CAS
PubMed
PubMed Central
Google Scholar
Zhou X, Stephens M. Genome-wide efficient mixed-model analysis for association studies. Nat Genet. 2012;44(7):821–4.
CAS
PubMed
PubMed Central
Google Scholar
Li MX, Yeung JM, Cherny SS, Sham PC. Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets. Hum Genet. 2012;131(5):747–56.
CAS
PubMed
Google Scholar
Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21(2):263–5.
CAS
PubMed
Google Scholar
Koressaar T, Remm M. Enhancements and modifications of primer design program Primer3. Bioinformatics. 2007;23(10):1289–91.
CAS
PubMed
Google Scholar
Belanger JM, Famula TR, Gershony LC, Palij MK, Oberbauer AM. Genome-wide association analysis of idiopathic epilepsy in the Belgian shepherd. Canine Med Genet. 2020;7(1):12.
PubMed Central
Google Scholar
Carpenter B, Gelman A, Hoffman MD, Lee D, Goodrich B, Betancourt M, et al. Stan: a probabilistic programming language. J Stat Softw. 2017;76(1).
R Core Team. R: a language and environment for statistical computing. Vienna: R Foundation for Statistical Computing; 2020. https://www.R-project.org/.
Vehtari A, Gelman A, Gabry J. Practical Bayesian model evaluation using leave-one-out cross-validation and WAIC. Stat Comput. 2017;27(5):1413–32.
Google Scholar
Vehtari A, Gabry J, Magnusson M, Yao Y, Bürkner P, Paananen T, Gelman A. loo: Efficient leave-one-out cross-validation and WAIC for Bayesian models. R package version 2.3.1. 2020. https://mc-stan.org/loo.
Robin X, Turck N, Hainard A, Tiberti N, Lisacek F, Sanchez J-C, et al. pROC: an open-source package for R and S+ to analyze and compare ROC curves. BMC Bioinformatics. 2011;12(1):77.
PubMed
PubMed Central
Google Scholar