Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
J Mol Neurosci. 2023 May;73(4-5):205-213. doi: 10.1007/s12031-023-02106-1. Epub 2023 Mar 16.
Genetic factors play a major role in essential tremor (ET) pathogenesis. This study aimed to assess variant burden in ET-associated genes in a relatively large Chinese population cohort. We genotyped 27 single nucleotide polymorphisms (SNPs) previously reported to be associated with ET by multiplex PCR amplicon sequencing assay in 488 familial and sporadic ET patients and 514 healthy controls (HCs). Then, we performed allelic and genotypic association test by Pearson chi-square test or Fisher's exact test. A total of 1002 samples were included in our analysis, consisting of 488 ET patients and 514 sex and age-matched HCs. For rs10937625, the C allele was linked to increased risk of ET (P = 0.019, OR = 1.503, 95% CI = 1.172-1.928). The carriers of the C/C homozygote and C/T heterozygote showed a significantly higher risk of ET, compared with the T/T homozygote under the dominant model (P = 0.019, OR = 1.628, 95% CI = 1.221-2.170). There were no statistically significant differences in the frequency of other SNPs between ET patients and healthy controls. Rs10937625 (STK32B) may increase the risk of ET in eastern Chinese population.
遗传因素在特发性震颤(ET)发病机制中起主要作用。本研究旨在评估在相对较大的中国人群队列中与 ET 相关的基因变异负担。我们通过多重 PCR 扩增子测序分析对 488 例家族性和散发性 ET 患者和 514 名健康对照(HC)中的 27 个先前报道与 ET 相关的单核苷酸多态性(SNP)进行了基因分型。然后,我们通过 Pearson χ2 检验或 Fisher 确切检验进行等位基因和基因型关联测试。我们的分析共纳入了 1002 例样本,包括 488 例 ET 患者和 514 例性别和年龄匹配的 HC。对于 rs10937625,C 等位基因与 ET 风险增加相关(P=0.019,OR=1.503,95%CI=1.172-1.928)。与 T/T 纯合子相比,C/C 纯合子和 C/T 杂合子携带者在显性模型下患 ET 的风险显著增加(P=0.019,OR=1.628,95%CI=1.221-2.170)。在 ET 患者和健康对照组之间,其他 SNP 的频率没有统计学上的显著差异。rs10937625(STK32B)可能会增加东亚人群患 ET 的风险。