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dc.contributor.authorWang, Youpei
dc.contributor.authorZhang, Xiaowei
dc.contributor.authorChen, Zhenzhen
dc.contributor.authorYu, Lan
dc.contributor.authorChen, Chunnuan
dc.contributor.authorHuang, Jinsha
dc.contributor.authorZhang, Zhentao
dc.contributor.authorMohmed, Asrah A
dc.contributor.authorXiong, Nian
dc.contributor.authorLiu, Ling
dc.contributor.authorXiong, Jing
dc.contributor.authorLin, Zhicheng
dc.contributor.authorWang, Tao
dc.date.accessioned2013-05-09T15:18:30Z
dc.date.issued2012
dc.identifier.citationWang, Youpei, Ling Liu, Jing Xiong, Xiaowei Zhang, Zhenzhen Chen, Lan Yu, Chunnuan Chen, et al. 2012. Glucocerebrosidase L444P mutation confers genetic risk for Parkinson’s disease in central China. Behavioral and Brain Functions 8(1): 57.en_US
dc.identifier.issn1744-9081en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:10612950
dc.description.abstractBackground: Mutations of the glucocerebrosidase (GBA) gene have reportedly been associated with Parkinson disease (PD) in various ethnic populations such as Singaporean, Japanese, Formosan, Canadian, American, Portuguese, Greek, Brazilian, British, Italian, Ashkenazi Jewish, southern and southwestern Chinese. The purpose of this study is to determine in central China whether or not the reported GBA mutations remain associated with PD. Methods: In this project, we conducted a controlled study in a cohort of 208 central Chinese PD patients and 298 controls for three known GBA mutations (L444P, N370S and R120W). Results: Our data reveals a significantly higher frequency of L444P mutation in GBA gene of PD cases (3.4%) compared with the controls (0.3%) (P = 0.007, OR = 10.34, 95% CI = 1.26 - 84.71). Specifically, the frequency of L444P mutation was higher in the late onset PD (LOPD) cases compared with that in control subjects. The N370S and R120W mutations were detected in neither the PD group nor the control subjects. Conclusions: Our observations demonstrated that the GBA L444P mutation confers genetic risk for PD, especially LOPD, among the population in the central China area.en_US
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofdoi:10.1186/1744-9081-8-57en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538614/pdf/en_US
dash.licenseLAA
dc.subjectParkinson’s diseaseen_US
dc.subjectGlucocerebrosidaseen_US
dc.subjectL444Pen_US
dc.subjectN370Sen_US
dc.subjectR120Wen_US
dc.subjectCentral Chinaen_US
dc.titleGlucocerebrosidase L444P Mutation Confers Genetic Risk for Parkinson’s Disease in Central Chinaen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalBehavioral and Brain Functionsen_US
dash.depositing.authorLin, Zhicheng
dc.date.available2013-05-09T15:18:30Z
dc.identifier.doi10.1186/1744-9081-8-57*
dash.authorsorderedfalse
dash.contributor.affiliatedLin, Zhicheng


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