title: Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China.
abstract: 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.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu 610041, Chengdu, China.
authors.forename: X-Y
authors.initials: XY
authors.lastname: Mao
authors.forename: J-M
authors.initials: JM
authors.lastname: Burgunder
authors.forename: Z-J
authors.initials: ZJ
authors.lastname: Zhang
authors.forename: X-K
authors.initials: XK
authors.lastname: An
authors.forename: J-H
authors.initials: JH
authors.lastname: Zhang
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
authors.forename: T
authors.initials: T
authors.lastname: Li
authors.forename: Y-C
authors.initials: YC
authors.lastname: Wang
authors.forename: X-L
authors.initials: XL
authors.lastname: Chang
authors.forename: R
authors.initials: R
authors.lastname: Peng
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D015331:Cohort Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D055815:Young Adult
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005962:Glucosylceramidase