IL1B polymorphism is associated with essential tremor in Chinese population

Abstract

Background The aim of the study was to investigate the genetic risk factors of essential tremor (ET) in Chinese Population. Methods A 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). Results We 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. Conclusions Our 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. Electronic supplementary material The online version of this article (10.1186/s12883-019-1331-5) contains supplementary material, which is available to authorized users.

A potential association of RNF219‐AS1 with ADHD: Evidence from categorical analysis of clinical phenotypes and from quantitative exploration of executive function and white matter microstructure endophenotypes

“…However, we should note that the potential genetic effect on gene expression was only found when the exon‐specific probeset exprID3518981 was used, while not for the exprID t3518971 which was derived from the mean over 13 probesets. Such phenomenon has been found in some other studies 53,54 . The precise reason of the inconsistency between the overall gene expression and the individual exon‐specific probesets was not unclear based on the available data.…”

Genetic Risk Factors for Essential Tremor: A Review

“…In a study in Caucasian Spanish, the ALAD rs1800435 polymorphism was not associated with familial essential tremor (FET) risk, but its interaction with the HMOX2 rs1051308 polymorphism could be weakly associated with the FET [80]. HMOX1 (rs2071746) and HMOX2 (rs4786504, rs1051308) did not associate with ET in the Chinese [18], while the allelic frequencies of rs2071746T (OR = 0.76, p = 0.015) and rs1051308G (OR = 0.71, p = 0.004) were lower in Spanish white ET patients [76].…”

“…Despite the possible contribution of specific environmental factors in ET development, also genetic factors probably contribute to ET risk. The significance of genes to ET risk has been demonstrated via the identification of genetic variants from familial studies [15,16], studies in twins [17], and the emerged variants derived from candidate gene association studies (CGASs) [18] and genome wide association studies (GWASs) [19][20][21].…”

“…Regarding the VDR gene, the TT genotype of the rs2228570 was associated with sporadic essential tremor (SET) (p = 0.033; OR = 0.453 and similarly, the C allele was associated with an increased risk of SET (p = 0.033; OR = 2.207) [81], while the rs731236 did not associate with ET in Chinese [18].…”

“…Polymorphisms in genes associated with Restless legs syndrome (RLS) [rs8193036 of interleukin-17A gene (IL17A), rs1143643, rs1143634, and rs1143633 of interleukin-1B (IL1B) gene, rs693534 and rs7977109 of nitric oxide synthase 1 (NOS1) gene and rs6413413 and rs1229984 of alcohol dehydrogenase (ADH1B) gene] have been examined for possible association with ET [18]. Solely rs1143633 of IL1B was associated with the risk of ET after adjusting for age and gender (recessive model) and after multiple comparisons correction (OR = 2.63, p = 0.002) [18].…”