Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.
Identifieur interne : 002A18 ( Ncbi/Curation ); précédent : 002A17; suivant : 002A19Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.
Auteurs : Qi-Ying Sun [République populaire de Chine] ; Ji-Feng Guo ; Lei Wang ; Ren-He Yu ; Xing Zuo ; Ling-Yan Yao ; Qian Pan ; Kun Xia ; Bei-Sha TangSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Asian Continental Ancestry Group (genetics), Case-Control Studies, Chi-Square Distribution, DNA Mutational Analysis (methods), Female, Glucosylceramidase (genetics), Humans, Leucine (genetics), Male, Meta-Analysis as Topic, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Proline (genetics).
- MESH :
- chemical , genetics : Glucosylceramidase, Leucine, Proline.
- genetics : Asian Continental Ancestry Group, Mutation, Parkinson Disease.
- methods : DNA Mutational Analysis.
- Adult, Case-Control Studies, Chi-Square Distribution, Female, Humans, Male, Meta-Analysis as Topic, Middle Aged.
Abstract
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.
DOI: 10.1002/mds.23009
PubMed: 20131388
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<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.</nlm:affiliation>
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<author><name sortKey="Wang, Lei" sort="Wang, Lei" uniqKey="Wang L" first="Lei" last="Wang">Lei Wang</name>
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<author><name sortKey="Yu, Ren He" sort="Yu, Ren He" uniqKey="Yu R" first="Ren-He" last="Yu">Ren-He Yu</name>
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<author><name sortKey="Zuo, Xing" sort="Zuo, Xing" uniqKey="Zuo X" first="Xing" last="Zuo">Xing Zuo</name>
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<author><name sortKey="Yao, Ling Yan" sort="Yao, Ling Yan" uniqKey="Yao L" first="Ling-Yan" last="Yao">Ling-Yan Yao</name>
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<author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name>
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<author><name sortKey="Yu, Ren He" sort="Yu, Ren He" uniqKey="Yu R" first="Ren-He" last="Yu">Ren-He Yu</name>
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<author><name sortKey="Zuo, Xing" sort="Zuo, Xing" uniqKey="Zuo X" first="Xing" last="Zuo">Xing Zuo</name>
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<author><name sortKey="Yao, Ling Yan" sort="Yao, Ling Yan" uniqKey="Yao L" first="Ling-Yan" last="Yao">Ling-Yan Yao</name>
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<author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name>
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<front><div type="abstract" xml:lang="en">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.</div>
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