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

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 using the MassARRAY System in 488 familial and sporadic ET patients and 514 healthy controls (HCs). Then we performed allelic and genotypic association test by Pearson chisquare 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 signi cantly 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 signi cant 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.

Association Analysis of Essential Tremor-Associated Genetic Variants in Sporadic Late-Onset Parkinson’s Disease

“…Several variants have also been examined for their possible association with ET in the Chinese population. STK32B (rs10937625) and CTNNA3 (rs7903491) were associated with ET in China in two studies [40,41]. Most association studies were reported negative results [42][43][44][45][46][47].…”