DNM1 mutation status, sex, and sterilization status of a cohort of Labrador retrievers with and without cranial cruciate ligament rupture.

BACKGROUND: Exercise-induced collapse (EIC) due to DNM1 mutation and rupture of the cranial cruciate ligament are both common syndromes in the Labrador retriever breed. A cohort of 313 Labradors was recruited based on their CCLR status and were subsequently genetically tested for EIC. Epidemiological aspects of the cohort were also described, including sex, sterilization status, and age at sterilization.

RESULTS: No sex difference was observed in dogs susceptible to EIC (homozygous for the mutant genotype) compared to dogs not susceptible to EIC (heterozygotes and dogs homozygous for the normal genotype). No evidence for association was detected between CCLR status and EIC status (p =0.357), although the sample cohort was not of sufficient size to entirely rule out an association. A significant difference (p = 0.031) was observed in the sex distribution of dogs affected with CCLR compared to those without CCLR. An increased number of female CCLR cases were observed compared to the number of female controls; male CCLR cases and controls were approximately the same number. When CCLR status was examined in each sex, no significant differences were observed between those that were sterilized and those that weren't. However, for female dogs that were sterilized, CCLR cases were significantly higher in dogs sterilized at one year of age or younger compared to those sterilized when over the age of one year (p = 0.0021, OR 4.30, 95% CI 1.55-12.72); for males, this finding was suggestive, but not statistically significant (p = 0.0913, OR 3.57, 95% CI 0.809-14.476).

CONCLUSIONS: CCLR is not associated with a large increase in EIC occurrence. Statistically, these two syndromes cannot be proven to be unrelated; however, concomitant occurrence of CCLR and EIC in Labrador retrievers is rare, despite the high prevalence of both syndromes in this breed. Epidemiological findings suggest that females may be over-represented in CCLR cases and that early sterilization (≤1 year) may increase the risk of Labradors developing CCLR later in life (particularly in females). These results should be considered preliminary and require confirmation in larger populations of Labrador retrievers.