SLC1A2 variant associated with essential tremor but not Parkinson disease in Chinese subjects

From the Departments of Neurology (E.-K.T.) and Clinical Research (E.-K.T., Y.Z.), Singapore General Hospital
Neurology (Impact Factor: 8.29). 04/2013; 80(17). DOI: 10.1212/WNL.0b013e31828f1903
Source: PubMed


Essential tremor (ET) is characterized by postural and action tremor.(1-3) A genome-wide association study (GWAS) identified a LINGO1 gene variant to be associated with ET.(4) Subsequent GWAS further identified an intronic variant (rs3794087) of the main glial glutamate transporter (SLC1A2) gene to be associated with ET with an odds ratio (OR) of approximately 1.4.(5) We conducted a case-control study to examine the SLC1A2 gene variant in an Asian cohort of ET. In addition, we also investigated the variant in patients with Parkinson disease (PD) because the GWAS LINGO1 variant has been implicated in both ET and PD and etiologic links between the conditions have been suggested.(6.)

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    • "Later, Tan et al has reported that the frequency of MAF was lower in ET compared with controls (15% vs 19.5%, OR=0.75, 95% CI 0.60–0.94, p= 0.009) in Singapore’s cohort [18], which was different from the GWAS and our results. Our study found association with the same allele as in the GWAS for ET. "
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    ABSTRACT: Essential tremor (ET), which is one of the most common movement disorders, may lead to severe interference in quality of life. The first genome-wide association study (GWAS) has identified an association of the LINGO1 variant (rs9652490) with ET in Americans and Europeans. Recently, a second GWAS that was performed in a European population has discovered a new variant (rs3794087) of the main glial glutamate transporter (SLC1A2) that increases the risk of ET with an odds ratio of about 1.4. SLC1A2 encodes for the major glial high-affinity glutamate reuptake transporter in the brain and is a potential ET susceptibility gene. Because replication in a different ethnic population is important for validating a finding, we conducted a case-control study to investigate the SLC1A2 variant in an Asian cohort with ET in Taiwan. A total of 542 subjects (273 ET patients and 269 controls) were included. The results showed that rs3794087 was associated with ET among the Taiwanese. The odds ratio was 1.37. Our results were similar to those of the second GWAS of ET in Europeans, and this confirms that SLC1A2 may be a good functional candidate gene for ET. A replication study in another independent population is of importance to validate this association.
    PLoS ONE 08/2013; 8(8):e71919. DOI:10.1371/journal.pone.0071919 · 3.23 Impact Factor
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    ABSTRACT: Background/objectives Glutamate has been implicated in the pathogenesis of migraine. We investigated the possible association between the polymorphism rs3794087 in the SLC1A2 gene (EATT2 or GLT-1; chromosome 11p13-p12 involved in glutamate transport) and the risk for migraine and for triggering migraine attacks by alcohol. Methods We studied the frequency of the rs3794087 genotypes and allelic variants in 197 patients with migraine and 308 healthy controls using a TaqMan-based qPCR Assay. Results The frequencies of the rs3794087 genotypes and alleles were similar in patients with migraine and controls, and were unrelated with the age of onset of migraine, gender, presence or absence of aura, or family history of migraine Conclusion rs3794087 genotype and allelic variants were not related with the risk for migraine in Caucasian Spanish people.
    Journal of the neurological sciences 01/2013; 338(1-2). DOI:10.1016/j.jns.2013.12.022 · 2.47 Impact Factor
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    ABSTRACT: 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. 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. 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. 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.
    Pharmacogenetics and Genomics 08/2013; 23(11). DOI:10.1097/FPC.0b013e328364db9d · 3.48 Impact Factor
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