Abstract：
: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.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Shi CH,Li F,Shi MM,Yang ZH,Mao CY,Zhang SY,Wang H,Cheng Y,Yang J,Wu J,Xu YMdoi
10.1038/s41598-017-01398-9subject
Has Abstractpub_date
2017-04-26 00:00:00pages
1190issue
1issn
2045-2322pii
10.1038/s41598-017-01398-9journal_volume
7pub_type
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