Association of common variants in the glucocerebrosidase gene with high susceptibility to Parkinson's disease among chinese

Chinese Journal of Physiology

Volumn 55, Issue 6, 2012, Pages 398-404

  Zhang, Xiong ^a   Bao, Qiong qiong ^b   Zhuang, Xiao sai ^b   Gan, Shi rui ^a   Zhao, Dan ^b   Liu, Yun ^b   Hu, Qiao ^b   Chen, Ying ^b   Zhu, Feiyan ^b   Wang, Lian ^b   Wang, Ning ^a  

^a FUJIAN MEDICAL UNIVERSITY   (China)

^b THE SECOND AFFILIATED HOSPITAL AND YUYING CHILDREN S HOSPITAL OF WENZHOU MEDICAL UNIVERSITY   (China)

Author keywords

Genetic association studies; Glucocerebrosidase; Metaanalysis; Parkinson's disease; Risk factors

Indexed keywords

DOPAMINE RECEPTOR STIMULATING AGENT; GLUCOSYLCERAMIDASE; LEVODOPA;

ADULT; AGED; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DRUG EFFECT; DRUG RESPONSE; ETHNICITY; EXON; FEMALE; GENE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GLUCOSYLCERAMIDASE GENE; HETEROZYGOTE; HUMAN; MALE; MOLECULAR PATHOLOGY; PARKINSON DISEASE; RISK ASSESSMENT; ASIAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION; GENETICS; META ANALYSIS; MUTATION;

ASIAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MUTATION; PARKINSON DISEASE;

EID: 84868638419     PISSN: 03044920     EISSN: 26660059     Source Type: Journal    
DOI: 10.4077/CJP.2012.BAA076     Document Type: Article

References (45)

1. Aharon-Peretz, J., Rosenbaum, H. and Gershoni-Baruch, R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 351: 1972-1977, 2004.
2. Beutler, E., Gelbart, T. and Scott, C.R. Hematologically important mutations: Gaucher disease. Blood Cells Mol. Dis. 35: 355-364, 2005.
3. Bras, J., Paisan-Ruiz, C., Guerreiro, R., Ribeiro, M.H., Morgadinho, A., Januario, C., Sidransky, E., Oliveira, C. and Singleton, A. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol. Aging 30: 1515-1517, 2009.
4. Chen, L., Liu, J., Ali, U., Gui, Z.H., Wang, Y., Wang, T., Hou, C. and Fan, L.L. Blockade of mGluR5 reverses abnormal firing of subthalamic nucleus neurons in 6-hydroxydopamine partially lesioned rats. Chinese J. Physiol. 54: 303-309, 2011.
5. Choy, F.Y., Zhang, W., Shi, H.P., Zay, A., Campbell, T., Tang, N. and Ferreira, P. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol. Dis. 38: 287-293, 2007.
6. Clark, L.N., Nicolai, A., Afridi, S., Harris, J., Mejia-Santana, H., Strug, L., Cote, L.J., Louis, E.D., Andrews, H., Waters, C., Ford, B., Frucht, S., Fahn, S., Mayeux, R., Ottman, R. and Marder, K. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov. Disord. 20: 100-103, 2005.
7. De Marco, E.V., Annesi, G., Tarantino, P., Rocca, F.E., Provenzano, G., Civitelli, D., Ciro Candiano, I.C., Annesi, F., Carrideo, S., Condino, F., Nicoletti, G., Messina, D., Novellino, F., Morelli, M. and Quattrone, A. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov. Disord. 23: 460-463, 2008.
8. Di Fonzo, A., Wu-Chou, Y.H., Lu, C.S., van Doeselaar, M., Simons, E.J., Rohe, C.F., Chang, H.C., Chen, R.S., Weng, Y.H., Vanacore, N., Breedveld, G.J., Oostra, B.A. and Bonifati, V. A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics 7: 133-138, 2006.
9. Dos Santos, A.V., Pestana, C.P., Diniz, K.R., Campos, M., Abdalla-Carvalho, C.B., de Rosso, A.L., Pereira, J.S., Nicaretta, D.H., de Carvalho, W.L., Dos Santos, J.M., Santos-Reboucas, C.B. and Pimentel, M.M. Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease. Neurosci. Lett. 485: 121-124, 2010.
10. Driver, J.A., Kurth, T., Buring, J.E., Gaziano, J.M. and Logroscino, G. Parkinson disease and risk of mortality: a prospective comorbiditymatched cohort study. Neurology 70: 1423-1430, 2008.
11. Eblan, M.J., Nguyen, J., Ziegler, S.G., Lwin, A., Hanson, M., Gallardo, M., Weiser, R., De Lucca, M., Singleton, A. and Sidransky, E. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov. Disord. 21: 282-283, 2006.
12. Fahn, S., Marsden, C.D. and Calne, D. Recent developments in Parkinson's disease. In: Macmillan Healthcare Information, edited by Fahn S., Marsden C.D., Calne D. and Goldstein M. Florham Park: New Jersey, 1987, pp. 153-163.
13. Gan-Or, Z., Giladi, N., Rozovski, U., Shifrin, C., Rosner, S., Gurevich, T., Bar-Shira, A. and Orr-Urtreger, A. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 70: 2277-2283, 2008.
14. Gan-Or, Z., Bar-Shira, A., Mirelman, A., Gurevich, T., Kedmi, M., Giladi, N. and Orr-Urtreger, A. LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. Neurogenetics 11: 121-125, 2010.
15. Gasser, T. Molecular pathogenesis of Parkinson disease: insights from genetic studies. Expert Rev. Mol. Med. 11: 1-20, 2009.
16. Gui, Z.H., Liu, J., Wang, Y., Ali, U., Wang, T. and Chen, L. Effects of chronic, systemic treatment with the dopamine receptor agonist R-apomorphine in partially lesioned rat model of Parkinson's disease: an electrophysiological study of substantia nigra dopamine neurons. Chinese J. Physiol. 54: 96-104, 2011.
17. Hardy, J. Genetic analysis of pathways to parkinson disease. Neuron 68: 201-206, 2010.
18. Hoehn, M.M. and Yahr, M.D. Parkinsonism: onset, progression, and mortality. Neurology 17: 427-442, 1967.
19. Hu, F.Y., Xi, J., Guo, J., Yu, L.H., Liu, L., He, X.H., Liu, Z.L., Zou, X.Y. and Xu, Y.M. Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China. Eur. J. Neurol. 17: 1476-1478, 2010.
20. Huang, C.L., Wu-Chou, Y.H., Lai, S.C., Chang, H.C., Yeh, T.H., Weng, Y.H., Chen, R.S., Huang, Y.Z. and Lu, C.S. Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan. Eur. J. Neurol. 18: 1227-1232, 2011.
21. Hughes, A.J., Daniel, S.E., Kilford, L. and Lees, A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinicopathological study of 100 cases. J. Neurol. Neurosurg Psychiatry 55: 181-184, 1992.
22. Kalinderi, K., Bostantjopoulou, S., Paisan-Ruiz, C., Katsarou, Z., Hardy, J. and Fidani, L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci. Lett. 452: 87-89, 2009.
23. Lee, G.S. and Lin, S.H. Changes of rhythm of vocal fundamental frequency in sensorineural hearing loss and in Parkinson's disease. Chinese J. Physiol. 52: 446-450, 2009.
24. Lesage, S., Condroyer, C., Hecham, N., Anheim, M., Belarbi, S., Lohman, E., Viallet, F., Pollak, P., Abada, M., Durr, A., Tazir, M. and Brice, A. Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa. Neurology 76: 301-303, 2011.
25. Lesage, S., Anheim, M., Condroyer, C., Pollak, P., Durif, F., Dupuits, C., Viallet, F., Lohmann, E., Corvol, J.C., Honore, A., Rivaud, S., Vidailhet, M., Durr, A. and Brice, A. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum. Mol. Genet. 20: 202-210, 2011.
26. Lewis, S.J., Foltynie, T., Blackwell, A.D., Robbins, T.W., Owen, A.M. and Barker, R.A. Heterogeneity of Parkinson's disease in the early clinical stages using a data driven approach. J. Neurol. Neurosurg Psychiatry 76: 343-348, 2005.
27. Lwin, A., Orvisky, E., Goker-Alpan, O., LaMarca, M.E. and Sidransky, E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol. Genet. Metab. 81: 70-73, 2004.
28. Mao, X.Y., Burgunder, J.M., Zhang, Z.J., An, X.K., Zhang, J.H., Yang, Y., Li, T., Wang, Y.C., Chang, X.L. and Peng, R. Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. Neurosci. Lett. 469: 256-259, 2010.
29. Mata, I.F., Samii, A., Schneer, S.H., Roberts, J.W., Griffith, A., Leis, B.C., Schellenberg, G.D., Sidransky, E., Bird, T.D., Leverenz, J.B., Tsuang, D. and Zabetian, C.P. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch. Neurol. 65: 379-382, 2008.
30. Mitsui, J., Mizuta, I., Toyoda, A., Ashida, R., Takahashi, Y., Goto, J., Fukuda, Y., Date, H., Iwata, A., Yamamoto, M., Hattori, N., Murata, M., Toda, T. and Tsuji, S. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch. Neurol. 66: 571-576, 2009.
31. Neumann, J., Bras, J., Deas, E., O'Sullivan, S.S., Parkkinen, L., Lachmann, R.H., Li, A., Holton, J., Guerreiro, R., Paudel, R., Segarane, B., Singleton, A., Lees, A., Hardy, J., Houlden, H., Revesz, T. and Wood, N.W. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 132: 1783-1794, 2009.
32. Nishioka, K., Vilariño-Güell, C., Cobb, S.A., Kachergus, J.M., Ross, O.A., Wider, C., Gibson, R.A., Hentati, F. and Farrer, M.J. Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa. Neurosci. Lett. 477: 57-60, 2010.
33. Sato, C., Morgan, A., Lang, A.E., Salehi-Rad, S., Kawarai, T., Meng, Y., Ray, P.N., Farrer, L.A., St George-Hyslop, P. and Rogaeva, E. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov. Disord. 20: 367-370, 2005.
34. Sidransky, E., Nalls, M.A., Aasly, J.O., Aharon-Peretz, J., Annesi, G., Barbosa, E.R., Bar-Shira, A., Berg, D., Bras, J., Brice, A., Chen, C.M., Clark, L.N., Condroyer, C., De Marco, E.V., Durr, A., Eblan, M.J., Fahn, S., Farrer, M.J., Fung, H.C., Gan-Or, Z., Gasser, T., Gershoni-Baruch, R., Giladi, N., Griffith, A., Gurevich, T., Januario, C., Kropp, P., Lang, A.E., Lee-Chen, G.J., Lesage, S., Marder, K., Mata, I.F., Mirelman, A., Mitsui, J., Mizuta, I., Nicoletti, G., Oliveira, C., Ottman, R., Orr-Urtreger, A., Pereira, L.V., Quattrone, A., Rogaeva, E., Rolfs, A., Rosenbaum, H., Rozenberg, R., Samii, A., Samaddar, T., Schulte, C., Sharma, M., Singleton, A., Spitz, M., Tan, E.K., Tayebi, N., Toda, T., Troiano, A.R., Tsuji, S., Wittstock, M., Wolfsberg, T.G., Wu, Y.R., Zabetian, C.P., Zhao, Y. and Ziegler, S.G. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 361: 1651-1661, 2009.
35. Spitz, M., Rozenberg, R., Pereira Lda, V. and Reis Barbosa, E. Association between Parkinson's disease and glucocerebrosidase mutations in Brazil. Parkinsonism Relat. Disord. 14: 58-62, 2008.
36. Sun, Q.Y., Guo, J.F., Wang, L., Yu, R.H., Zuo, X., Yao, L.Y., Pan, Q., Xia, K. and Tang, B.S. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population. Mov. Disord. 25: 1005-1011, 2010.
37. Tan, E.K., Tong, J., Fook-Chong, S., Yih, Y., Wong, M.C., Pavanni, R. and Zhao, Y. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch. Neurol. 64: 1056-1058, 2007.
38. Toft, M., Pielsticker, L., Ross, O.A., Aasly, J.O. and Farrer, M.J. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology 66: 415-417, 2006.
39. Velayati, A., Yu, W.H. and Sidransky, E. The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr. Neurol. Neurosci. Rep. 10: 190-198, 2010.
40. Wan, L., Hsu, C.M., Tsai, C.H., Lee, C.C., Hwu, W.L. and Tsai, F.J. Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol. Dis. 36: 422-425, 2006.
41. Wu, T., Zeng, Y., Ding, X., Li, X., Li, W., Dong, H., Chen, S., Zhang, X., Ma, G., Yao, J. and Deng, X. A novel P755L mutation in LRRK2 gene associated with Parkinson's disease. Neuroreport 17: 1859-1862, 2006.
42. Wu, Y.R., Chen, C.M., Chao, C.Y., Ro, L.S., Lyu, R.K., Chang, K.H. and Lee-Chen, G.J. Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. J. Neurol. Neurosurg Psychiatry 78: 977-979, 2007.
43. Xu, C., Xu, J., Zhang, Y., Ma, J., Kawakami, H., Maruyama, H. and Kamada, M. Analysis on the susceptibility genes in two chinese pedigrees with familial Parkinson's disease. Neurol. Res. Int. 2010: 1-4, 2010.
44. Zhang, Z.X., Roman, G.C., Hong, Z., Wu, C.B., Qu, Q.M., Huang, J.B., Zhou, B., Geng, Z.P., Wu, J.X., Wen, H.B., Zhao, H. and Zahner, G.E. Parkinson's disease in China: prevalence in Beijing, Xian, and Shanghai. Lancet 365: 595-597, 2005.
45. Ziegler, S.G., Eblan, M.J., Gutti, U., Hruska, K.S., Stubblefield, B.K., Goker-Alpan, O., LaMarca, M.E. and Sidransky, E. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol. Genet. Metab. 91: 195-200, 2007.