Epilepsy is the most common chronic neurological disorder in dogs. Approximately 20–30% of dogs do not achieve satisfactory seizure control with two or more anti-epileptic drugs at appropriate dosages. This condition, defined as refractory epilepsy, is a multifactorial condition involving both acquired and genetic factors. The P glycoprotein might play and important role in the pathophysiological mechanism and it is encoded by the ABCB1 gene. An association between a single nucleotide variation of the ABCB1 gene (c.-6-180T > G) and phenobarbital resistance has previously been reported in a Border collie population with idiopathic epilepsy. To date, the presence and relevance of this polymorphism has not been assessed in other breeds. A multicentre retrospective, case-control study was conducted to investigate associations between ABCB1 c.-6-180T > G, clinical variables, and refractoriness in a multi-breed population of dogs with refractory idiopathic epilepsy. A secondary aim was to evaluate the possible involvement of the ABCB1 c.-6-180 T > G single nucleotide variation this population. Fifty-two refractory and 50 responsive dogs with idiopathic epilepsy were enrolled. Of these, 45 refractory and 50 responsive (control) dogs were genotyped. The G allele was found in several breeds, but there was no evidence of association with refractoriness (P = 0.69). The uncertain role of the c.-6-180T > G variation was further suggested by an association between the T/T genotype with both refractoriness and responsiveness in different breeds. Furthermore, high seizure density (cluster seizure) was the main clinical risk factor for refractory idiopathic epilepsy (P = 0.003).

Gagliardo T., Gandini G., Gallucci A., Menchetti M., Bianchi E., Turba M.E., et al. (2019). ABCB1 c.-6-180T > G polymorphism and clinical risk factors in a multi-breed cohort of dogs with refractory idiopathic epilepsy. THE VETERINARY JOURNAL, 253, 1-8 [10.1016/j.tvjl.2019.105378].

ABCB1 c.-6-180T > G polymorphism and clinical risk factors in a multi-breed cohort of dogs with refractory idiopathic epilepsy

Gagliardo T.
Primo
Writing – Original Draft Preparation
;
Gandini G.
Secondo
Writing – Review & Editing
;
Gentilini F.
Ultimo
Writing – Review & Editing
2019

Abstract

Epilepsy is the most common chronic neurological disorder in dogs. Approximately 20–30% of dogs do not achieve satisfactory seizure control with two or more anti-epileptic drugs at appropriate dosages. This condition, defined as refractory epilepsy, is a multifactorial condition involving both acquired and genetic factors. The P glycoprotein might play and important role in the pathophysiological mechanism and it is encoded by the ABCB1 gene. An association between a single nucleotide variation of the ABCB1 gene (c.-6-180T > G) and phenobarbital resistance has previously been reported in a Border collie population with idiopathic epilepsy. To date, the presence and relevance of this polymorphism has not been assessed in other breeds. A multicentre retrospective, case-control study was conducted to investigate associations between ABCB1 c.-6-180T > G, clinical variables, and refractoriness in a multi-breed population of dogs with refractory idiopathic epilepsy. A secondary aim was to evaluate the possible involvement of the ABCB1 c.-6-180 T > G single nucleotide variation this population. Fifty-two refractory and 50 responsive dogs with idiopathic epilepsy were enrolled. Of these, 45 refractory and 50 responsive (control) dogs were genotyped. The G allele was found in several breeds, but there was no evidence of association with refractoriness (P = 0.69). The uncertain role of the c.-6-180T > G variation was further suggested by an association between the T/T genotype with both refractoriness and responsiveness in different breeds. Furthermore, high seizure density (cluster seizure) was the main clinical risk factor for refractory idiopathic epilepsy (P = 0.003).
2019
Gagliardo T., Gandini G., Gallucci A., Menchetti M., Bianchi E., Turba M.E., et al. (2019). ABCB1 c.-6-180T > G polymorphism and clinical risk factors in a multi-breed cohort of dogs with refractory idiopathic epilepsy. THE VETERINARY JOURNAL, 253, 1-8 [10.1016/j.tvjl.2019.105378].
Gagliardo T.; Gandini G.; Gallucci A.; Menchetti M.; Bianchi E.; Turba M.E.; Cauduro A.; Corlazzoli D.S.; Gianni S.; Baroni M.; Bernardini M.; Gentili...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/718449
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