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. 2023 May;73(4-5):205-213.
doi: 10.1007/s12031-023-02106-1. Epub 2023 Mar 16.

Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor

Lanxiao Cao  1 , Luyan Gu  2 , Jiali Pu  2 , Dayao Lv  1 , Jun Tian  2 , Xinzhen Yin  2 , Ting Gao  2 , Zhe Song  2 , Jinyu Lu  1 , Gaohua Zhao  1 , Baorong Zhang  2 , Yaping Yan  3 , Guohua Zhao  4   5
Affiliations

Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor

Lanxiao Cao et al. J Mol Neurosci. 2023 May.

Abstract

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.

Keywords: Essential tremor; Gene; Movement disorders; STK32B; Single nucleotide polymorphisms (SNPs).

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