Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson's disease.
Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson's disease.
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中国汉族帕金森病患者TMEM230基因遗传分析
DOI：
10.1038/s41598-017-01398-9
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发表时间：
2017-04-26
影响因子：
4.6
通讯作者：
Xu YM
中科院分区：
文献类型：
--
作者：
Shi CH;Li F;Shi MM;Yang ZH;Mao CY;Zhang SY;Wang H;Cheng Y;Yang J;Wu J;Xu YM
最近有报道称，TMEM230突变可导致常染色体显性遗传性帕金森病(PD)。然而，来自不同种族人群的研究有限，支持TMEM230在散发性帕金森病中的作用。在这项研究中，我们对550名散发性帕金森病患者和560名对照组进行了全面的TMEM230突变筛查，以阐明TMEM230基因对散发性帕金森病的遗传贡献。总体而言，我们没有在编码序列中发现任何致病突变，而我们在患者和对照组中都发现了四个变异(c.68 + 182G >； A，c.78A >； G，c.552 + 11A >； G和c.174 + 11C >； T)，而c.68 + 182G >； A似乎与帕金森病的风险增加有关(优势比1.782，95%可信区间1.035-3.067，p <； 0.05)。然而，在Bonferroni校正后，c.68 + 182g >； A与散发性帕金森病无显著关联(p c = 0.136，p c >； 0.0 5)。因此，我们的结果提示TMEM230基因突变在中国人群中可能很少见，TMEM230基因的变异可能不是中国汉族人群散发性帕金森病的主要因素。还需要更多的证据来澄清这个问题。
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.