Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs
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Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs. / Fitzwilliams, Therese; Wolff-Sneedorff, Julie L.; Fredholm, Merete; Karlskov-Mortensen, Peter; Guldbrandtsen, Bernt; Bruun, Camilla S.
I: Animal Genetics, Bind 54, Nr. 4, 2023, s. 566-569.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs
AU - Fitzwilliams, Therese
AU - Wolff-Sneedorff, Julie L.
AU - Fredholm, Merete
AU - Karlskov-Mortensen, Peter
AU - Guldbrandtsen, Bernt
AU - Bruun, Camilla S.
N1 - Publisher Copyright: © 2023 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.
PY - 2023
Y1 - 2023
N2 - Cystinuria is a genetic disease that can lead to cystine urolith formation. The English bulldog is the dog breed most frequently affected. In this breed, three missense mutations have been suggested to be associated with cystinuria: c.568A>G and c.2086A>G in SLC3A1 and c.649G>A in SLC7A9. In this study, the occurrence of these three mutations in the Danish population of English bulldogs was investigated. Seventy-one English bulldogs were genotyped using TaqMan assays. The dogs’ owners were given questionnaires concerning the medical histories of their dogs. Allele frequencies of 0.40, 0.40, and 0.52 were found for the mutant alleles in the three loci: c.568A>G, c.2086A>G, and c.649G>A, respectively. For both mutations in SLC3A1, a statistically significant association was found between cystinuria and homozygosity for the G allele among male, English bulldogs. For the mutation in SLC7A9, there was no statistically significant association between homozygosity for the mutant allele and cystinuria. Due to high allele frequencies, limited genetic diversity, continued uncertainty about the genetic background of cystinuria, and more severe health problems in the breed, selection based on genetic testing for the mutations in SLC3A1 cannot be recommended in the Danish population of English bulldogs. However, results of the genetic test may be used as a guide to recommend prophylactic treatment.
AB - Cystinuria is a genetic disease that can lead to cystine urolith formation. The English bulldog is the dog breed most frequently affected. In this breed, three missense mutations have been suggested to be associated with cystinuria: c.568A>G and c.2086A>G in SLC3A1 and c.649G>A in SLC7A9. In this study, the occurrence of these three mutations in the Danish population of English bulldogs was investigated. Seventy-one English bulldogs were genotyped using TaqMan assays. The dogs’ owners were given questionnaires concerning the medical histories of their dogs. Allele frequencies of 0.40, 0.40, and 0.52 were found for the mutant alleles in the three loci: c.568A>G, c.2086A>G, and c.649G>A, respectively. For both mutations in SLC3A1, a statistically significant association was found between cystinuria and homozygosity for the G allele among male, English bulldogs. For the mutation in SLC7A9, there was no statistically significant association between homozygosity for the mutant allele and cystinuria. Due to high allele frequencies, limited genetic diversity, continued uncertainty about the genetic background of cystinuria, and more severe health problems in the breed, selection based on genetic testing for the mutations in SLC3A1 cannot be recommended in the Danish population of English bulldogs. However, results of the genetic test may be used as a guide to recommend prophylactic treatment.
KW - breeding recommendations
KW - COLA transporter defect
KW - cystine crystalluria
KW - cystine urolithiasis
KW - English bulldog
U2 - 10.1111/age.13321
DO - 10.1111/age.13321
M3 - Journal article
C2 - 36971195
AN - SCOPUS:85151410040
VL - 54
SP - 566
EP - 569
JO - Animal Genetics
JF - Animal Genetics
SN - 0268-9146
IS - 4
ER -
ID: 343338449