Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy.
OBJECTIVE
Recently a coding nonsynonymous single-nucleotide polymorphism (SNP; G1465A) in the GABBR1 gene was reported to be associated with the incidence and severity of temporal lobe epilepsy (TLE). To clarify the role of this polymorphism in TLE, we attempted to replicate this study.


METHODS
We genotyped 188 unrelated patients with TLE (110 women, 78 men) and 259 controls of middle European descent by a restriction-length polymerase chain reaction (PCR) assay.


RESULTS
Only two (0.5%) patients and none of the controls exhibited the heterozygous A/G genotype, which was previously reported to be overrepresented among patients as compared with controls.


CONCLUSIONS
Although our study was sufficiently powered, we could not replicate the original association. Potential reasons for this failure could lie in subtle genetic differences between the studied populations or differences in the TLE phenotypes.
Stogmann
Elisabeth
E
Department of Clinical Neurology, Core Unit of Medical Statistics and Informatics, Medical University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria. elisabeth.stoegmann@meduniwien.ac.at
Zimprich
Alexander
A
Baumgartner
Christoph
C
Gleiss
Andreas
A
Zimprich
Fritz
F
D000293:Adolescent; D000328:Adult; D000368:Aged; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000706:statistics & numerical data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D018080:Receptors, GABA-B / Q000235:genetics*; D015203:Reproducibility of Results; D012107:Research Design / Q000592:standards; D015183:Restriction Mapping / Q000706:statistics & numerical data; D044465:White People / Q000235:genetics
D018080:Receptors, GABA-B