{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:19:27Z","timestamp":1792804767667,"version":"4.5.0"},"reference-count":41,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2023,11,25]],"date-time":"2023-11-25T00:00:00Z","timestamp":1700870400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Fund, Luxembourg","award":["AFR15686728"],"award-info":[{"award-number":["AFR15686728"]}],"id":[{"id":"https:\/\/ror.org\/039z13y21","id-type":"ROR","asserted-by":"crossref"}]},{"name":"National Research Fund, Luxembourg","award":["491094227"],"award-info":[{"award-number":["491094227"]}],"id":[{"id":"https:\/\/ror.org\/039z13y21","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)","award":["AFR15686728"],"award-info":[{"award-number":["AFR15686728"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)","award":["491094227"],"award-info":[{"award-number":["491094227"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]},{"name":"University of Veterinary Medicine Hannover, Foundation","award":["AFR15686728"],"award-info":[{"award-number":["AFR15686728"]}],"id":[{"id":"https:\/\/ror.org\/015qjqf64","id-type":"ROR","asserted-by":"crossref"}]},{"name":"University of Veterinary Medicine Hannover, Foundation","award":["491094227"],"award-info":[{"award-number":["491094227"]}],"id":[{"id":"https:\/\/ror.org\/015qjqf64","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>AA-amyloidosis in Siamese and Oriental shorthair cats is a lethal condition in which amyloid deposits accumulate systemically, especially in the liver and the thyroid gland. The age at death of affected cats varies between one and seven years. A previous study indicated a complex mode of inheritance involving a major locus. In the present study, we performed a multi-locus genome-wide association study (GWAS) using five methods (mrMLM, FASTmrMLM, FASTmrEMMA, pLARmEB and ISIS EM-BLASSO) to identify variants associated with AA-amyloidosis in Siamese\/Oriental cats. We genotyped 20 affected mixed Siamese\/Oriental cats from a cattery and 48 healthy controls from the same breeds using the Illumina Infinium Feline 63 K iSelect DNA array. The multi-locus GWAS revealed eight significantly associated single nucleotide polymorphisms (SNPs) on FCA A1, D1, D2 and D3. The genomic regions harboring these SNPs contain 55 genes, of which 3 are associated with amyloidosis in humans or mice. One of these genes is SAA1, which encodes for a member of the Serum Amyloid A family, the precursor protein of Amyloid A, and a mutation in the promotor of this gene causes hereditary AA-amyloidosis in humans. These results provide novel knowledge regarding the complex genetic background of hereditary AA-amyloidosis in Siamese\/Oriental cats and, therefore, contribute to future genomic studies of this disease in cats.<\/jats:p>","DOI":"10.3390\/genes14122126","type":"journal-article","created":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T03:33:56Z","timestamp":1701056036000},"page":"2126","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Single Nucleotide Polymorphisms Associated with AA-Amyloidosis in Siamese and Oriental Shorthair Cats"],"prefix":"10.3390","volume":"14","author":[{"given":"Stella L.","family":"Esders","sequence":"first","affiliation":[{"name":"Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover (Foundation), 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1577-5856","authenticated-orcid":false,"given":"Kirsten","family":"H\u00fclsk\u00f6tter","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Veterinary Medicine Hannover (Foundation), 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0978-2067","authenticated-orcid":false,"given":"Tom","family":"Schreiner","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Veterinary Medicine Hannover (Foundation), 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9184-4134","authenticated-orcid":false,"given":"Peter","family":"Wohlsein","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Veterinary Medicine Hannover (Foundation), 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9843-7339","authenticated-orcid":false,"given":"Jessica","family":"Schmitz","sequence":"additional","affiliation":[{"name":"Nephropathology Unit, Institute of Pathology, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan H.","family":"Br\u00e4sen","sequence":"additional","affiliation":[{"name":"Nephropathology Unit, Institute of Pathology, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3516-836X","authenticated-orcid":false,"given":"Ottmar","family":"Distl","sequence":"additional","affiliation":[{"name":"Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover (Foundation), 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,25]]},"reference":[{"key":"ref_1","unstructured":"Kumar, V., Abbas, A., Fausto, N., and Aster, J. 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