The prevalence of ABCB1:c.227_230delATAG mutation in affected dog breeds from European countries

Firdova, Zuzana; Turnova, Evelina; Bielikova, Marcela; Turña, Ján; Dudáš, Andrej

doi:10.1016/j.rvsc.2016.03.016

Cited by 21 publications

(28 citation statements)

References 31 publications

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“…One study conducted within the USA found the mutation in 77% of collies and almost 50% of Australian shepherds . A European study found that 75% of collies and 58% of Australian shepherds were positive for the mutation . When compared with these studies, our results within both collie and Australian shepherd populations were reasonably consistent, as the estimated proportion for rough collies in our study was 73% (95% CI: 69% to 77%) and for Australian shepherds was 53% (95% CI: 51% to 56%).…”

Section: Discussionsupporting

confidence: 82%

“…Knowledge of the heritable nature and potential significant adverse effects of the ABCB1‐1Δ mutation has prompted large‐scale ABCB1 genotyping studies to be undertaken around the world. To date, the most common breeds identified with the mutation are the collie, Australian shepherd, longhaired whippet and silken windhound . Less commonly affected breeds include the German shepherd, old English sheepdog, and border collie .…”

mentioning

confidence: 99%

“…The mutation has also been identified in a number of mixed breed dogs. Geographically, the prevalence of the ABCB1‐1Δ homozygous mutation has been quite similar among the collie breed in the USA and Europe, with approximately 30% of collies affected . However, in other breeds, geographic differences have been shown.…”

mentioning

confidence: 99%

“…To date, the most common breeds identified with the mutation are the collie, Australian shepherd, longhaired whippet and silken windhound. 11,12 Less commonly affected breeds include the German shepherd, old English sheepdog, and border collie. 13 The mutation has also been identified in a number of mixed breed dogs.…”

mentioning

confidence: 99%

“…Geographically, the prevalence of the ABCB1-1Δ homozygous mutation has been quite similar among the collie breed in the USA and Europe, with approximately 30% of collies affected. 11,12 However, in other breeds, geographic differences have been shown. In Australian shepherds, the affected proportion in different countries varies from 1.7% to 11.3%, and in longhaired whippets *Corresponding author.…”

mentioning

confidence: 99%

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Breed is associated with the ABCB1‐1Δ mutation in Australian dogs

Soussa¹,

Woodward

Marty³

et al. 2019

Aust Veterinary J

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Objective The ABCB1 gene encodes P‐glycoprotein (P‐gp), a cellular membrane pump. One functional mutation that leads to expression of a less functional form of P‐gp, ABCB1‐1Δ, has been described in dogs. Individuals with this mutation can have severe adverse reactions to common veterinary pharmaceuticals that are known substrates of this pump. We investigated the detection of this mutation in samples submitted to two Australian diagnostic laboratories. Methods A total of 4842 dogs across 27 breeds were tested for the ABCB1‐1Δ mutation from buccal swabs or EDTA blood using standard PCR, multiplex PCR, or genotyping chip. Statistical analysis was applied to determine the proportions and odds ratios of the ABCB1‐1Δ mutation in herding breeds compared with non‐herding breeds. Results The ABCB1‐1Δ mutation was detected in nine breeds. The most commonly affected breeds were collies, Australian shepherds, white Swiss shepherds, and Shetland sheepdogs. Of 32 dogs in 18 non‐herding breeds tested, one cocker spaniel and one labradoodle were positive for the mutation, both heterozygous. Conclusion The most frequently affected breeds for ABCB1‐1Δ mutation are the collie, Australian shepherd, white Swiss shepherd and Shetland sheepdog. As the mutation is associated with an increased incidence of adverse reactions to commonly used pharmaceuticals, veterinarians need to be aware of the breeds at most risk of carrying this mutation and consider testing these individuals prior to administering these medications.

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Section: Discussionsupporting

confidence: 82%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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