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Association Between the nt230(del4) Mutation and c.-6-180T>G Polymorphism in the Canine ABCB1 Gene
Orsolya Palócz1, Réka Wágner1, György Csikó1
1Department of Pharmacology and Toxicology, University of Veterinary Medicine, Budapest, Hungary, univet.hu.
Veterinary Medicine International
|July 12, 2026
Summary
A common ABCB1 gene deletion causing drug sensitivity is linked to a nearby SNP in collie-lineage dogs. This co-occurrence suggests shared ancestry or linkage, requiring further study on the SNP's functional role.
Area of Science:
- Veterinary Genetics
- Pharmacogenomics
- Canine Molecular Biology
Background:
- The ABCB1 (MDR1) gene encodes P-glycoprotein, crucial for drug transport in dogs.
- A known 4-base pair deletion (nt230(del4)) causes drug sensitivity in specific breeds.
- A promoter-associated single nucleotide polymorphism (SNP), c.-6-180T>G, has an unclear clinical significance.
Purpose of the Study:
- To determine the genotype distribution of the nt230(del4) deletion and c.-6-180T>G SNP across diverse dog breeds.
- To investigate potential associations between these two ABCB1 gene variants.
Main Methods:
- Genotyping of 263 dogs from 17 breeds for both mutations.
- DNA extraction using spin column-based methods.
- Detection of the deletion via allele-specific real-time PCR and the SNP via PCR-RFLP analysis.
Main Results:
- The nt230(del4) deletion was exclusively found in collie-lineage breeds.
- The c.-6-180T>G SNP was prevalent across all breeds, with a 35% G allele frequency.
- All dogs with the deletion also carried at least one G allele of the SNP, indicating co-occurrence.
Conclusions:
- A significant association exists between the nt230(del4) deletion and the c.-6-180T>G SNP in the studied cohort.
- This association may stem from shared ancestry or linkage disequilibrium.
- Further research is needed to elucidate the functional impact of the c.-6-180T>G SNP on canine drug response.
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