No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population.
OBJECTIVE
A recent genome-wide association study and other replication studies have suggested that the rs3794087 single nucleotide polymorphism in the solute carrier family 1 - glial affinity glutamate transporter-member 2 (SLC1A2) gene is associated with an increased risk for essential tremor (ET), and a replication study in an Asian cohort has shown a decreased risk for ET associated with the rs3794087T allele. We tried to replicate this association in a White Spanish population.


METHODS
We analyzed the distribution of allelic and genotypic frequencies of rs3794087 in 202 patients with familial ET and 308 healthy controls using a TaqMan-based quantitative PCR assay.


RESULTS
Genotypic and allelic frequencies of rs3794087 did not differ significantly between patients with ET and controls and were unrelated with the age at onset of tremor or sex.


CONCLUSIONS
Our study suggests that SLC1A2 rs3794087 is not associated with the risk for developing familial ET in the Spanish population, thus subtracting relevance to SLC1A2 rs3794087 as a risk biomarker for ET.
Departments of aBiochemistry and Molecular Biology bPharmacology, University of Extremadura, Cáceres cDepartment of Pharmacology, University of Extremadura, Badajoz dSection of Neurology, University Hospital of Sureste eDepartment of Medicine-Neurology, Hospital "Príncipe de Asturias", University of Alcalá fService of Neurology, Hospital "Doce de Octubre", Department of Medicine, University Complutense gCenter for Biomedical Investigation, Net of Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid hNeurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra iDepartment of Neurology, University Clinic of Navarra, University of Navarra School of Medicine, Pamplona jDepartment of Neurology, University Hospital of Salamanca, Salamanca, Spain.
Elena
E
García-Martín
Carmen
C
Martínez
Hortensia
H
Alonso-Navarro
Julián
J
Benito-León
Oswaldo
O
Lorenzo-Betancor
Pau
P
Pastor
Sara
S
Ortega-Cubero
Tomás
T
López-Alburquerque
José A G
JA
Agúndez
Félix J
FJ
Jiménez-Jiménez
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D020329:Essential Tremor / Q000453:epidemiology / Q000235:genetics*; D027342:Excitatory Amino Acid Transporter 2; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D050491:Glutamate Plasma Membrane Transport Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology
D027342:Excitatory Amino Acid Transporter 2; D050491:Glutamate Plasma Membrane Transport Proteins; C493397:SLC1A2 protein, human