Mutations in GBA and risk of Parkinson's disease: A meta-analysis based on 25 case control studies

Neurological Research

Volumn 35, Issue 8, 2013, Pages 873-878

  Mao, Xueye ^a   Wang, Tinghua ^a   Peng, Rong ^a   Chang, Xueli ^a   Li, Nannan ^a   Gu, Yingli ^b   Zhao, Dongmei ^a   Liao, Qiao ^a   Liu, Ming ^a  

^a SICHUAN UNIVERSITY   (China)

^b HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

Glucocerebrosidase; Meta analysis; Mutation; Parkinson's disease

Indexed keywords

GLUCOSYLCERAMIDASE;

CASE CONTROL STUDY; ETHNICITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; META ANALYSIS; MULTICENTER STUDY (TOPIC); PARKINSON DISEASE; REVIEW; RISK FACTOR;

CASE-CONTROL STUDIES; ETHNIC GROUPS; GENETIC PREDISPOSITION TO DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MUTATION; PARKINSON DISEASE;

EID: 84884177319     PISSN: 01616412     EISSN: 17431328     Source Type: Journal    
DOI: 10.1179/1743132813Y.0000000224     Document Type: Review

References (47)

1. de Lau LM, Breteler MM. Epidemiology of Parkinson's disease. Lancet Neurol. 2006;5:525-35.
2. Schulte C, Gasser T. Genetic basis of Parkinson's disease: inheritance, penetrance, and expression. Appl Clin Genet. 2011;4:67-80.
3. Bembi B, Marsala SZ, Sidransky E, Ciana G, Carrozzi M, Zorzon M, et al. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology. 2003;61:99-101.
4. Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab. 2004;81:70-3.
5. Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet. 1989;2:349-52.
6. Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008;29:567-83.
7. Sato C, Morgan A, Lang AE, Salehi-Rad S, Kawarai T, Meng Y, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord. 2005;20:367-70.
8. Mao XY, Burgunder JM, Zhang ZJ, An XK, Zhang JH, Yang Y, et al. Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. Neurosci Lett. 2010;469:256-9.
9. Spitz M, Rozenberg R, Pereira Lda V, Reis Barbosa E. Association between Parkinson's disease and glucocerebrosidase mutations in Brazil. Parkinsonism Relat Disord. 2008;14:58-62.
10. Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology. 2008;70:2277-83.
11. Emelyanov A, Boukina T, Yakimovskii A, Usenko T, Drosdova A, Zakharchuk A, et al. Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia. Mov Disord. 2012;27:158-9.
12. Nishioka K, Vilarino-Guell C, Cobb SA, Cobb SA, Kachergus JM, Mann DM, et al. Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa. Neurosci Lett. 2010;477:57-60.
13. Toft M, Pielsticker L, Ross OA, Aasly JO, Farrer MJ. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology. 2006;66:415-7.
14. Eblan MJ, Nguyen J, Ziegler SG, Lwin A, Hanson M, Gallardo M, et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord. 2006;21:282-3.
15. Kumar KR, Ramirez A, Gobel A, Kresojević N, Svetel M, Lohmann K, et al. Glucocerebrosidase mutations in a Serbian Parkinson's disease population. Eur J Neurol. 2012; 1468-331.
16. Choi JM, Kim WC, Lyoo CH, Kang SY, Lee PH, Baik JS, et al. Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population. Neurosci Lett. 2012;514:12-5.
17. Lesage S, Condroyer C, Hecham N, Anheim M, Belarbi S, Lohman E, et al. Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa. Neurology. 2011;76:301-3.
18. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med. 2004;351:1972-7.
19. Hu FY, Xi J, Guo J, Yu LH, Liu L, He XH, et al. Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China. Eur J Neurol. 2010;17:1476-8.
20. Huang CL, Wu-Chou YH, Lai SC, Chang HC, Yeh TH, Weng YH, et al. Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan. Eur J Neurol. 2011;18:1227-32.
21. Sun QY, Guo JF, Wang L, Yu RH, Zuo X, Yao LY, et al. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population. Mov Disord. 2010;25:1005-11.
22. Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, et al. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab. 2007;91:195-200.
23. Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, et al. Multicenter analysis of glucocerebrosidasemutations in Parkinson's disease. N Engl J Med. 2009;361:1651-61.
24. Higgins JPT, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med. 2002;21:1539-58.
25. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7:177-88.
26. Galbraith RF. A note on graphical presentation of estimated odds ratios from several clinical trials. Stat Med. 1988;7:889-894.
27. Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics. 1994;50:1088-101.
28. Egger M, Smith GD, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315:629-34.
29. Socal MP, Bock H, Michelin-Tirelli K, Hilbig A, Saraiva-Pereira ML, Rieder CR, et al. Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians. Parkinsonism Relat Disord. 2009;15:76-8.
30. Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, et al. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology. 2009;72:310-6.
31. Wu YR, Chen CM, Chao CY, Ro LS, Lyu RK, Chang KH, et al. Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. J Neurol Neurosurg Psychiatry. 2007;78:977-9.
32. Clark LN, Nicolai A, Afridi S, Harris J, Mejia-Santana H, Strug L, et al. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov Disord. 2005;20:100-3.
33. Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging. 2009;30:1515-7.
34. De Marco EV, Annesi G, Tarantino P, Rocca FE, Provenzano G, Civitelli D, et al. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov Disord. 2008;23:460-3.
35. Seto-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, et al. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Mov Disord. 2012;27:393-9.
36. Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain. 2009;132: 1783-94.
37. Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet. 2011;20:202-10.
38. Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009;66:571-6.
39. Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, Louis ED, et al. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology. 2007;69:1270-7.
40. Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett. 2009;452:87-9.
41. Tan E-K, Tong J, Fook-Chong S, Yih Y, Wong MC, Pavanni R, et al. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch Neurol. 2007;64:1056-8.
42. Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassilatis D, et al. Beta-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease. Mol Genet Metab. 2011;104:149-52.
43. de Carvalho Guimarães B, Valente Pereira AC, da Costa Rodrigues F, dos Santos AV, Campos M Jr, dos Santos JM, et al. Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients. Parkinsonism Relat Disord. 2012;18:688-9.
44. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics. 1989;4 (1):87-96.
45. Tsuji S, Choudary PV, Martin BM. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med. 1987;316:570-5.
46. Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci U S A. 1988;85:2349-52.
47. Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, et al. Assessing the impact of population stratification on genetic association studies. Nat Genet. 2004;36:388-93.