Lack of evidence for association of a UCH-L1 S18Y polymorphism with Parkinson's disease in a Han-Chinese population

Neuroscience Letters

Volumn 442, Issue 3, 2008, Pages 200-202

  Zhang, Z J ^a   Burgunder, J M ^a,b,c   An, X K ^a   Wu, Y ^a   Chen, W J ^a,d   Zhang, J H ^a,e   Wang, Y C ^a   Xu, Y M ^a   Gou, Y R ^a   Yuan, G G ^a   Mao, X Y ^a   Peng, R ^a  

^a SICHUAN UNIVERSITY   (China)

^b UNIVERSITY OF BERN   (Switzerland)

^c Dept Medicine Endocrinol Diabet   (Singapore)

^d Provincial Hospital   (China)

^e SICHUAN UNIVERSITY   (China)

Author keywords

Gene polymorphism; Parkinson's disease; S18Y; UCHL1

Indexed keywords

PROTEIN UCH L1; UBIQUITIN THIOLESTERASE;

ADULT; AGED; ARTICLE; CHINESE; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GENE FREQUENCY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; UBIQUITIN THIOLESTERASE;

EID: 48749132960     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2008.07.012     Document Type: Article

References (33)

1. Carmine Belin A., Westerlund M., Bergman O., Nissbrandt H., Lind C., Sydow O., and Galter D. S18Y in ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) associated with decreased risk of Parkinson's disease in Sweden. Parkinsonism Relat. Disord. 13 (2007) 295-298
2. de Rijk M.C., Launer L.J., Berger K., Breteler M.M., Dartigues J.F., Baldereschi M., Fratiglioni L., Lobo A., Martinez-Lage J., Trenkwalder C., Hofman A., and Neurologic Diseases in the Elderly Research Group. Prevalence of Parkinson's disease in Europe: a collaborative study of population-based cohorts. Neurology 54 Suppl. 5 (2000) S21-S23
3. Dekker M.C., Bonifati V., and van Duijn C.M. Parkinson's disease: piecing together a genetic jigsaw. Brain 126 (2003) 1722-1733
4. Elbaz A., Levecque C., Clavel J., Vidal J.S., Richard F., Corrèze J.R., Delemotte B., Amouyel P., Alpérovitch A., Chartier-Harlin M.C., and Tzourio C. S18Y polymorphism in the UCH-L1 gene and Parkinson's disease: evidence for an age-dependent relationship. Mov. Disord. 18 (2003) 130-137
5. Facheris M., Strain K.J., Lesnick T.G., de Andrade M., Bower J.H., Ahlskog J.E., Cunningham J.M., Lincoln S., Farrer M.J., Rocca W.A., and Maraganore D.M. UCHL1 is associated with Parkinson's disease: a case-unaffected sibling and case-unrelated control study. Neurosci. Lett. 381 (2005) 131-134
6. Gasser T. Genetics of Parkinson's disease. Curr. Opin. Neurol. 18 (2005) 363-369
7. Harhangi B.S., Farrer M.J., Lincoln S., Bonifati V., Meco G., De Michele G., Brice A., Durr A., Martinez M., Gasser T., Bereznai B., Vaughan J.R., Wood N.W., Hardy J., Oostra B.A., and Breteler M.M. The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. Neurosci. Lett. 270 (1999) 1-4
8. Healy D.G., Abou-Sleiman P.M., Casas J.P., Ahmadi K.R., Lynch T., Gandhi S., Muqit M.M., Foltynie T., Barker R., Bhatia K.P., Quinn N.P., Lees A.J., Gibson J.M., Holton J.L., Revesz T., Goldstein D.B., and Wood N.W. UCHL-1 is not a Parkinson's disease susceptibility gene. Ann. Neurol. 59 (2006) 627-633
9. Hughes A.J., Daniel S.E., Kilford L., and Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson_s disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry 55 (1992) 181-184
10. Hutter C.M., Samii A., Factor S.A., Nutt J.G., Higgins D.S., Bird T.D., Griffith A., Roberts J.W., Leis B.C., Montimurro J.S., Kay D.M., Edwards K.L., Payami H., and Zabetian C.P. Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease. Eur. J. Neurol. 15 (2008) 134-139
11. Jackson P., and Thompson R.J. The demonstration of new human brain-specific proteins by high-resolution two-dimensional polyacrylamide gel electrophoresis. J. Neurol. Sci. 49 (1981) 429-438
12. Larsen C.N., Price J.S., and Wilkinson K.D. Substrate binding and catalysis by ubiquitin C-terminal hydrolases: identification of two active site residues. Biochemistry 35 (1996) 6735-6744
13. Leroy E., Boyer R., Auburger G., Leube B., Ulm G., Mezey E., Harta G., Brownstein M.J., Jonnalagada S., Chernova T., Dehejia A., Lavedan C., Gasser T., Steinbach P.J., and Wilkinson K.D. Polymeropoulos MH. The ubiquitin pathway in Parkinson's disease. Nature 395 (1998) 451-452
14. Levecque C., Destée A., Mouroux V., Becquet E., Defebvre L., Amouyel P., and Chartier-Harlin M.C. No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease. J. Neural Transm. 108 (2001) 979-984
15. Lincoln S., Vaughan J., Wood N., Baker M., Adamson J., Gwinn-Hardy K., Lynch T., Hardy J., and Farrer M. Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease. Neuroreport 10 (1999) 427-429
16. Liu Y., Fallon L., Lashuel H.A., Liu Z., and Lansbury Jr. P.T. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell 111 (2002) 209-218
17. Lowe J., McDermott H., Landon M., Mayer R.J., and Wilkinson K.D. Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases. J. Pathol. 161 (1990) 153-160
18. Maraganore D.M., Farrer M.J., Hardy J.A., Lincoln S.J., McDonnell S.K., and Rocca W.A. Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. Neurology 53 (1999) 1858-1860
19. Maraganore D.M., Lesnick T.G., Elbaz A., Chartier-Harlin M.C., Gasser T., Krüger R., Hattori N., Mellick G.D., Quattrone A., Satoh J., Toda T., Wang J., Ioannidis J.P., de Andrade M., and Rocca W.A. UCHL1 is a Parkinson's disease susceptibility gene. Ann. Neurol. 55 (2004) 512-521
20. McNaught K.S., Olanow C.W., Halliwell B., Isacson O., and Jenner P. Failure of the ubiquitin-proteasome system in Parkinson's disease. Nat. Rev. Neurosci. 2 (2001) 589-594
21. Mellick G.D., and Silburn P.A. The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease. Neurosci. Lett. 293 (2000) 127-130
22. Mellick G.D., Buchanan D.D., Silburn P.A., Chan D.K., Le Couteur D.G., Law L.K., Woo J., and Pang C.P. The monoamine oxidase B gene GT repeat polymorphism and Parkinson's disease in a Chinese population. J. Neurol. 247 (2000) 52-55
23. Nicholl D.J., Bennett P., Hiller L., Bonifati V., Vanacore N., Fabbrini G., Marconi R., Colosimo C., Lamberti P., Stocchi F., Bonuccelli U., Vieregge P., Ramsden D.B., Meco G., Williams A.C., and European Study Group on Atypical Parkinsonism. A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders. Neurology 53 (1999) 1415-1421
24. Satoh J., and Kuroda Y. A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population. J. Neurol. Sci. 189 (2001) 113-117
25. Setsuie R., and Wada K. The functions of UCH-L1 and its relation to neurodegenerative diseases. Neurochem. Int. 51 (2007) 105-111
26. Shi Q., and Tao E. An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease. Chin. Med. J. 116 (2003) 312-313
27. Tan E.K., Puong K.Y., Fook-Chong S., Chua E., Shen H., Yuen Y., Pavanni R., Wong M.C., Puvan K., and Zhao Y. Case-control study of UCHL1 S18Y variant in Parkinson's disease. Mov. Disord. 21 (2006) 1765-1768
28. Wang J., and Liu Z. No association between paraoxonase 1 (PON1) gene polymorphisms and susceptibility to Parkinson's disease in a Chinese population. Mov. Disord. 15 (2000) 1265-1267
29. Wang J., Zhao C.Y., Si Y.M., Liu Z.L., Chen B., and Yu L. ACT and UCH-L1 polymorphisms in Parkinson's disease and age of onset. Mov. Disord. 17 (2002) 767-771
30. Warner T.T., and Schapira A.H. Genetic and environmental factors in the cause of Parkinson's disease. Ann. Neurol. 53 Suppl. 3 (2003) S16-S23
31. Wilkinson K.D., Lee K.M., Deshpande S., Duerksen-Hughes P., Boss J.M., and Pohl J. The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-terminal hydrolase. Science 246 (1989) 670-673
32. Zhang J., Hattori N., Giladi N., and Mizuno Y. Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease. Parkinsonism Relat. Disord. 6 (2000) 199-200
33. Zhang J., Hattori N., Leroy E., Morris H.R., Kubo S., Kobayashi T., Wood N.W., Polymeropoulos M.H., and Mizuno Y. Association between a polymorphism of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene and sporadic Parkinson's disease. Parkinsonism Relat. Disord. 6 (2000) 195-197