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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    • "In light of this evidence, the neurotransmitters imbalance has been speculated to contribute to the pathophysiology of ET. In this perspective, the glutamatergic metabolism has lately received some attention, but genetic studies have revealed controversial outcomes (Thier et al., 2012; García-Martín et al., 2013; Tan et al., 2013; Yu et al., 2013; Ross et al., 2014). The role of dopamine was also assessed in a number of studies that tried anti-psychotics (Pakkenberg and Pakkenberg, 1986; Ceravolo et al., 1999; Micheli et al., 2002; Yetimalar et al., 2003, 2005) and dopaminergic drugs (Koller, 1981; Manyam, 1984; Gironell et al., 2006) in ET management; tremor improvement was only "
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    ABSTRACT: Essential tremor (ET) is among the most frequent movement disorders. It usually manifests as a postural and kinematic tremor of the arms, but may also involve the head, voice, lower limbs, and trunk. An oscillatory network has been proposed as a neural correlate of ET, and is mainly composed of the olivocerebellar system, thalamus, and motor cortex. Since pharmacological agents have limited benefits, surgical interventions like deep brain stimulation are the last-line treatment options for the most severe cases. Non-invasive brain stimulation techniques, particularly transcranial magnetic or direct current stimulation, are used to ameliorate ET. Their non-invasiveness, along with their side effects profile, makes them an appealing treatment option. In addition, peripheral stimulation has been applied in the same perspective. Hence, the aim of the present review is to shed light on the emergent use of non-invasive central and peripheral stimulation techniques in this interesting context.
    Full-text · Article · Nov 2015 · Frontiers in Neuroscience
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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.
    Preview · Article · Aug 2013 · PLoS ONE
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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.
    No preview · Article · Jan 2013 · Journal of the neurological sciences
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