Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.
An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83-25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Qi-Ying
QY
Sun
Ji-Feng
JF
Guo
Lei
L
Wang
Ren-He
RH
Yu
Xing
X
Zuo
Ling-Yan
LY
Yao
Qian
Q
Pan
Kun
K
Xia
Bei-Sha
BS
Tang
D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008297:Male; D015201:Meta-Analysis as Topic; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D011392:Proline / Q000235:genetics*
D011392:Proline; D005962:Glucosylceramidase; D007930:Leucine