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Neurological Research
A Journal of Progress in Neurosurgery, Neurology and Neurosciences
Volume 35, 2013 - Issue 8
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Review

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

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Pages 873-878 | Published online: 03 Dec 2013

References

  • de Lau LM, Breteler MM. Epidemiology of Parkinson's disease. Lancet Neurol. 2006;5:525–35.
  • Schulte C, Gasser T. Genetic basis of Parkinson's disease: inheritance, penetrance, and expression. Appl Clin Genet. 2011;4:67–80.
  • 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.
  • Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab. 2004;81:70–3.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, et al.. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009;361:1651–61.
  • Higgins JPT, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med. 2002;21:1539–58.
  • DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7:177–88.
  • Galbraith RF. A note on graphical presentation of estimated odds ratios from several clinical trials. Stat Med. 1988;7:889–894.
  • Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics. 1994;50:1088–101.
  • Egger M, Smith GD, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315:629–34.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • de Carvalho Guimarães B, Valente Pereira AC, da Costa Rodrigues F, dos Santos AV, Campos M, 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.
  • 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.
  • 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.
  • 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.
  • 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.

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