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TMEM230  mutations have been recently reported to cause autosomal dominant Parkinson’s disease (PD). However, there are limited studies from different ethnic populations to support the role of  TMEM230  in sporadic PD. In this study, we performed a comprehensive  TMEM230  mutation screening in 550 sporadic PD patients and 560 controls to elaborate the genetic contribution of  TMEM230  to sporadic PD. Overall, we did not find any pathogenic mutations in the coding sequence, while we identified four variants (c.68 + 182G > A, c.78A > G, c.552 + 11A > G and c.174 + 11C > T) both in the patients and controls, and c.68 + 182G > A appeared to be associated with an increased risk of PD (odds ratio 1.782, 95% confidence interval 1.035–3.067,  p  < 0.05). After Bonferroni correction, however, c. 68 + 182G > A had no significant association with sporadic PD ( p   c  = 0.136,  p   c  > 0.05). Thus our results suggest that  TMEM230  gene mutations may be rare in Chinese populations, and the variability of  TMEM230  gene may not be a main factor for sporadic PD patients in Chinese Han populations. More evidence is still needed to clarify this question.

Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s disease