Department of Neurology, West China Hospital, Sichuan University, Chengdu 610041, Chengdu, China.
Neurosci Lett. 2010 Jan 22;469(2):256-9. doi: 10.1016/j.neulet.2009.12.007. Epub 2009 Dec 11.
Mutations in GBA gene have been reported to be in patients with Parkinson's disease (PD) from different ethnic populations, including Taiwanese Chinese. To explore whether mutation in GBA is also associated with PD in Mainland China, we have now a case control study. The occurrence of the GBA L444P mutation was analyzed in an independent cohort of PD patients and controls from Mainland China. This mutation was present in 20/616 (3.2%) of PD compared with 1/411 (0.2%) of controls (odds ratio, OR=13.76, 95% Confidence interval, CI: 1.84-102.92, p=0.001). All carriers harbored the heterozygous genotype. In a subset analysis, the frequency of this mutation was higher both in early onset (EOPD) and late onset PD (LOPD) than in controls. However, no difference in clinical characteristics, such as gender, age at onset, onset symptoms, Hoehn-Yahr stage and UPDRS, was found between L444P carriers and non-carriers. In addition, we also explored the potential relationship between GBA L444P mutation and LRRK2 G2385R and R1628P variants in patients with PD. But no association was found, either. In conclusion, our data suggest that the GBA L444P mutation plays an important role in the development of PD also in Han-Chinese patients from Mainland China.
GBA 基因突变已在来自不同种族人群的帕金森病（PD）患者中报道，包括台湾华人。为了探讨 GBA 突变是否也与中国大陆的 PD 有关，我们现在进行了一项病例对照研究。我们分析了来自中国大陆的独立 PD 患者和对照者中 GBA L444P 突变的发生情况。该突变在 616 例 PD 患者中存在 20 例（3.2%），而在 411 例对照者中存在 1 例（0.2%）（比值比，OR=13.76，95%置信区间，CI：1.84-102.92，p=0.001）。所有携带者均携带杂合基因型。在亚组分析中，该突变在早发性（EOPD）和迟发性 PD（LOPD）中的频率均高于对照者。然而，在 L444P 携带者和非携带者之间，没有发现性别、发病年龄、发病症状、Hoehn-Yahr 分期和 UPDRS 等临床特征的差异。此外，我们还探讨了 GBA L444P 突变与 PD 患者 LRRK2 G2385R 和 R1628P 变异之间的潜在关系。但也没有发现关联。总之，我们的数据表明，GBA L444P 突变在中国大陆汉族 PD 患者的发病中也起着重要作用。
