Abstract
BackgroundThe aim of the study was to investigate the genetic risk factors of essential tremor (ET) in Chinese Population.MethodsA total of 225 ET patients (25 ET patients also had restless legs syndrome (RLS) and were excluded from final analysis) and 229 controls were recruited. The diagnosis of ET was based on the Consensus Statement of the Movement Disorders Society on tremor. Polymerase chain reaction (PCR) and sequencing were used to detect 12 single nucleotide polymorphisms (SNPs) in seven candidate genes for RLS (HMOX1, HMOX2, VDR, IL17A, IL1B, NOS1 and ADH1B).ResultsWe found that one SNP was associated with the risk of ET in Chinese population after adjusting for age and gender: rs1143633 of IL1B (odds ratio [OR] =2.57, p = 0.003, recessive model), and the statistical result remained significant after Bonferroni correction. Then, we performed a query in Genotype-tissue Expression (GTEx), Brain eQTL Almanac (Braineac) databases and Blood expression quantitative trait loci (eQTL) browser. The significant association was only found between genotype at rs1143633 and IL1B expression level of putamen and white matter in Braineac database, which was more prominent with homozygous (GG) carriers.ConclusionsOur study firstly reported the association of IL1B polymorphism with the risk of ET in Chinese population. However, the association might only suggest a marker of IL1B SNP associated with ET instead of the casual variant. Further studies are needed to confirm our finding.
Highlights
The aim of the study was to investigate the genetic risk factors of essential tremor (ET) in Chinese Population
The fact that HMOX2 rs4786504C allele contributes to high-altitude adaption in Tibetans by leading to a more efficient breakdown of heme makes us wonder if HMOX2 could be a risk
One hundred of total recruited ET (44.44%) had a positive family history for ET. 25 ET patients (11.11%) were diagnosed with Restless legs syndrome (RLS) (Additional file 3). We excluded those 25 ET patients diagnosed with RLS in order to exclude the effect of RLS comorbidity on the association study of Single nucleotide polymorphism (SNP) with ET
Summary
The aim of the study was to investigate the genetic risk factors of essential tremor (ET) in Chinese Population. Clinical surveys have shown that more than half of the ET or RLS patients report at least one first degree relative was affected with either or both of these diseases [2, 3]. Dopamine transporter (DAT) binding in the striatum was shown to be decreased in some RLS patients [4] or ET patients [5], suggesting a possible dopamine dysregulation in both diseases. Genetic factors play an Several studies have investigated other candidate genes for RLS, including HMOX1, HMOX2, VDR, IL17A, IL1B, NOS1, ADH1B and GABRR3. Garcia-Martin et al found HMOX1 rs2071746 was associated with the risk of RLS in the Spanish population [19]. The fact that HMOX2 rs4786504C allele contributes to high-altitude adaption in Tibetans by leading to a more efficient breakdown of heme makes us wonder if HMOX2 could be a risk
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