IL1B polymorphism is associated with essential tremor in Chinese population

BMC Neurology

Jianfang Ma¹  Jie Chen¹  Shishuang Cui¹  Pei Huang¹  Shengdi Chen¹  Yachao He¹  Junyi Shen¹  Juanjuan Du¹ 

[1] 0000 0004 1760 6738, grid.412277.5, Department of Neurology & Co-innovation Center of Neuroregeneration, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 200025, Shanghai, China;

关键词: Essential tremor;    Genetic risk factors;    SNPs;    IL1B;    Restless legs syndrome;   

DOI  :  10.1186/s12883-019-1331-5

来源: publisher

【 摘 要 】

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.

【 授权许可】

CC BY