Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
Identifieur interne : 000701 ( Main/Exploration ); précédent : 000700; suivant : 000702Glucocerebrosidase 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 [République populaire de Chine] ; Lei Wang [République populaire de Chine] ; Ren-He Yu [République populaire de Chine] ; Xing Zuo [République populaire de Chine] ; Ling-Yan Yao [République populaire de Chine] ; Qian Pan [République populaire de Chine] ; Kun Xia [République populaire de Chine] ; Bei-Sha Tang [République populaire de Chine]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-06-15.
English descriptors
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. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23009
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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. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>République populaire de Chine</li></country></list><tree><country name="République populaire de Chine"><noRegion><name sortKey="Sun, Qi Ing" sort="Sun, Qi Ing" uniqKey="Sun Q" first="Qi-Ying" last="Sun">Qi-Ying Sun</name></noRegion><name sortKey="Guo, Ji Eng" sort="Guo, Ji Eng" uniqKey="Guo J" first="Ji-Feng" last="Guo">Ji-Feng Guo</name><name sortKey="Guo, Ji Eng" sort="Guo, Ji Eng" uniqKey="Guo J" first="Ji-Feng" last="Guo">Ji-Feng Guo</name><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name><name sortKey="Tang, Bei Ha" sort="Tang, Bei Ha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name><name sortKey="Tang, Bei Ha" sort="Tang, Bei Ha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name><name sortKey="Tang, Bei Ha" sort="Tang, Bei Ha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name><name sortKey="Wang, Lei" sort="Wang, Lei" uniqKey="Wang L" first="Lei" last="Wang">Lei Wang</name><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name><name sortKey="Yao, Ling An" sort="Yao, Ling An" uniqKey="Yao L" first="Ling-Yan" last="Yao">Ling-Yan Yao</name><name sortKey="Yu, Ren E" sort="Yu, Ren E" uniqKey="Yu R" first="Ren-He" last="Yu">Ren-He Yu</name><name sortKey="Zuo, Xing" sort="Zuo, Xing" uniqKey="Zuo X" first="Xing" last="Zuo">Xing Zuo</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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