The -1021C->T DBH gene variant is not associated with epilepsy or antiepileptic drug response.
Dopamine beta-hydroxylase (DBH) catalyzes the conversion of dopamine to norepinephrine (NE). Animal studies show that genes in the NE pathway are candidates for susceptibility to epilepsy and antiepileptic drug (AED) response. The authors genotyped the -1021C-->T major functional polymorphism in the DBH gene in 675 patients with epilepsy and 1,087 controls. The authors found no association with epilepsy, several epilepsy subtypes, or AED response. The results suggest that the -1021C-->T variant does not contribute to epilepsy.
Depondt
C
C
Department of Molecular Neurosciences, Institute of Neurology, London, UK.
Cock
H R
HR
Healy
D G
DG
Burley
M W
MW
Weinshenker
D
D
Wood
N W
NW
Goldstein
D B
DB
Sisodiya
S M
SM
D000927:Anticonvulsants / Q000378:metabolism*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004299:Dopamine beta-Hydroxylase / Q000235:genetics*; D004351:Drug Resistance / Q000235:genetics*; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D005060:Europe; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D009638:Norepinephrine / Q000096:biosynthesis*; D017354:Point Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D000927:Anticonvulsants; D004299:Dopamine beta-Hydroxylase; D009638:Norepinephrine