Prevalence of SOD1 allele associated with degenerative myelopathy in canine population in Greece

• Published in: Research in veterinary science 2023-09, Vol.162, p.104959-104959, Article 104959
• Main Authors: Kountourantzis, Antonis, Minoudi, Styliani, Karaiskou, Nikoleta, Papakostas, Spiros, Moulistanos, Aristotelis, Baka, Rania D., Tsartsianidou, Valentina, Vlachavas, Antonios, Aivaliotis, Michalis, Polizopoulou, Zoe S., Triantafyllidis, Alexandros
• Format: Article
• Language: English
• Subjects: Degenerative myelopathy; Dogs; Genetic analysis; Genetic polymorphism; SOD1 gene
• ISSN: 0034-5288; 1532-2661
• DOI: 10.1016/j.rvsc.2023.104959

Canine degenerative myelopathy (CDM) is a late-onset fatal disorder associated with a point mutation of the superoxide dismutase 1 (SOD1) gene (c.118G > A). The purpose of this study was to determine the genotype and allele frequencies of this mutation in 108 dogs, mainly in Belgian Malinois and German Shepherd dogs with (CDM-affected group) and without CDM clinical symptoms (control group) in Greece. Genotyping of the c.118G > A mutation was possible by Sanger sequencing and PCR-RFLP. The observed genotype frequencies for the control group were 89.4% for the homozygous (G/G), 9.6% for the heterozygous (A/G), and 0.96% for the homozygous mutant (A/A) allele. The mutant allele was not common in the Belgian Malinois dogs (allele frequency = 0.029), but quite common in the German Shepherd dogs (allele frequency = 0.138). In the CDM affected group, all 4 dogs were homozygous for the mutant allele. These frequencies were close to those expected, indicating no significant departure from Hardy-Weinberg equilibrium. A strong but not statistically significant association between the mutant allele and CDM was observed. A previously identified deletion upstream of the mutation of interest was found at a high frequency (0.361) in the population. •Genetic analysis of a point mutation related to canine degenerative myelopathy.•The mutant allele was not common in the Belgian Malinois dogs in Greece (0.029).•The mutant allele was quite common in the German Shepherd dogs in Greece (0.138).•All affected dogs were homozygous for the mutant allele.•Sequencing problems due to a deletion in the gene addressed by an in-house algorithm.