Association of the glucocerebrosidase N370S allele with Parkinson’s disease in two separate Chinese Han populations of mainland China

作者: F.-Y. Hu , J. Xi , J. Guo , L.-H. Yu , L. Liu

DOI: 10.1111/J.1468-1331.2010.03097.X

关键词: Case-control studyMedicineParkinson's diseaseGeneticsGenotypeInternal medicineMolecular epidemiologyGlucosylceramidaseAlleleGastroenterologyAge of onsetGlucocerebrosidase

摘要: Background and purpose:  Mutations in the glucocerebrosidase (GBA) gene have been implicated development of Parkinson’s disease (PD). However, recent screenings for GBA mutations PD subjects from different ethnic populations yielded contradictory results. Methods:  We performed a case–control study to look possible association between N370S allele involving 628 two separate Chinese Han mainland China. All were successfully genotyped by polymerase chain reaction–restriction fragment length polymorphism analysis. Results:  A total six patients with control carried allele. Although cases (1.8%) had an increased frequency compared controls (0.7%), difference was not statistically significant (P = 0.290). when stratified age at onset, higher late-onset (LOPD) (3.2%) observed. Conclusions:  Our results suggest that might be associated LOPD population this phenomenon should further examined larger study.

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