GIGYF2 Asn56Ser mutation is rare in Chinese Parkinson's disease patients

Neuroscience Letters

Volumn 463, Issue 3, 2009, Pages 172-175

  Zhang, Yu ^a   Zheng, Lan ^a   Zhang, Ting ^a   Wang, Ying ^a   Xiao, Qin ^a   Fei, Qin Zhou ^a   Cui, Pei Jing ^a   Cao, Li ^a   Chen, Sheng Di ^a,b  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^b Chinese Academy of Sciences   (China)

Author keywords

Asn56Ser; Chinese; GIGYF2; Parkinson's disease

Indexed keywords

ASPARAGINE; GENOMIC DNA; GROWTH FACTOR RECEPTOR BOUND PROTEIN 10 INTERACTING GYP PROTEIN 2; MEMBRANE PROTEIN; SERINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHINA; CHINESE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; OUTPATIENT; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; YOUNG ADULT;

EID: 68949203458     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2009.07.067     Document Type: Article

References (28)

1. Bras J., Simon-Sanchez J., Federoff M., Morgadinho A., Januario C., Ribeiro M., Cunha L., Oliveira C., and Singleton A.B. Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum. Mol. Genet. 18 (2009) 341-346
2. 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 (2006) 133-138
3. Funayama M., Hasegawa K., Kowa H., Saito M., Tsuji S., and Obata F. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann. Neurol. 51 (2002) 296-301
4. Gasser T., Muller-Myhsok B., Wszolek Z.K., Oehlmann R., Calne D.B., Bonifati V., Bereznai B., Fabrizio E., Vieregge P., and Horstmann R.D. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat. Genet. 18 (1998) 262-265
5. Healy D.G., Falchi M., O'Sullivan S.S., Bonifati V., Durr A., Bressman S., Brice A., Aasly J., Zabetian C.P., Goldwurm S., Ferreira J.J., Tolosa E., Kay D.M., Klein C., Williams D.R., Marras C., Lang A.E., Wszolek Z.K., Berciano J., Schapira A.H., Lynch T., Bhatia K.P., Gasser T., Lees A.J., and Wood N.W. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol. 7 (2008) 583-590
6. Hicks A.A., Petursson H., Jonsson T., Stefansson H., Johannsdottir H.S., Sainz J., Frigge M.L., Kong A., Gulcher J.R., Stefansson K., and Sveinbjornsdottir S. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann. Neurol. 52 (2002) 549-555
7. 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
8. Lang A.E., and Lozano A.M. Parkinson's disease. First of two parts. N. Engl. J. Med. 339 (1998) 1044-1053
9. Lautier C., Goldwurm S., Durr A., Giovannone B., Tsiaras W.G., Pezzoli G., Brice A., and Smith R.J. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am. J. Hum. Genet. 82 (2008) 822-833
10. Li C., Ting Z., Qin X., Ying W., Li B., Guo Qiang L., Jian Fang M., Jing Z., Jian Qing D., and Sheng Di C. The prevalence of LRRK2 Gly2385Arg variant in Chinese Han population with Parkinson's disease. Mov. Disord. 22 (2007) 2439-2443
11. 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
12. Matsumine H., Saito M., Shimoda-Matsubayashi S., Tanaka H., Ishikawa A., Nakagawa-Hattori Y., Yokochi M., Kobayashi T., Igarashi S., Takano H., Sanpei K., Koike R., Mori H., Kondo T., Mizutani Y., Schaffer A.A., Yamamura Y., Nakamura S., Kuzuhara S., Tsuji S., and Mizuno Y. Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27. Am. J. Hum. Genet. 60 (1997) 588-596
13. Meeus B., Nuytemans K., Crosiers D., Engelborghs S., Pals P., Pickut B., Peeters K., Mattheijssens M., Corsmit E., Cras P., De Deyn P.P., Theuns J., and Van Broeckhoven C. GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population. Neurobiol. Aging (2009)
14. Nichols W.C., Kissell D.K., Pankratz N., Pauciulo M.W., Elsaesser V.E., Clark K.A., Halter C.A., Rudolph A., Wojcieszek J., Pfeiffer R.F., and Foroud T. Variation in GIGYF2 is not associated with Parkinson disease. Neurology (2009)
15. Pankratz N., Nichols W.C., Uniacke S.K., Halter C., Murrell J., Rudolph A., Shults C.W., Conneally P.M., and Foroud T. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum. Mol. Genet. 12 (2003) 2599-2608
16. Pankratz N., Nichols W.C., Uniacke S.K., Halter C., Rudolph A., Shults C., Conneally P.M., and Foroud T. Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am. J. Hum. Genet. 71 (2002) 124-135
17. Pankratz N., Nichols W.C., Uniacke S.K., Halter C., Rudolph A., Shults C., Conneally P.M., and Foroud T. Significant linkage of Parkinson disease to chromosome 2q36-37. Am. J. Hum. Genet. 72 (2003) 1053-1057
18. Polymeropoulos M.H., Higgins J.J., Golbe L.I., Johnson W.G., Ide S.E., Di Iorio G., Sanges G., Stenroos E.S., Pho L.T., Schaffer A.A., Lazzarini A.M., Nussbaum R.L., and Duvoisin R.C. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 274 (1996) 1197-1199
19. Rocca W.A. Prevalence of Parkinson's disease in China. Lancet Neurol. 4 (2005) 328-329
20. Schultheis P.J., Hagen T.T., O'Toole K.K., Tachibana A., Burke C.R., McGill D.L., Okunade G.W., and Shull G.E. Characterization of the P5 subfamily of P-type transport ATPases in mice. Biochem. Biophys. Res. Commun. 323 (2004) 731-738
21. Scott W.K., Nance M.A., Watts R.L., Hubble J.P., Koller W.C., Lyons K., Pahwa R., Stern M.B., Colcher A., Hiner B.C., Jankovic J., Ondo W.G., Allen Jr. F.H., Goetz C.G., Small G.W., Masterman D., Mastaglia F., Laing N.G., Stajich J.M., Slotterbeck B., Booze M.W., Ribble R.C., Rampersaud E., West S.G., Gibson R.A., Middleton L.T., Roses A.D., Haines J.L., Scott B.L., Vance J.M., and Pericak-Vance M.A. Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA 286 (2001) 2239-2244
22. Strauss K.M., Martins L.M., Plun-Favreau H., Marx F.P., Kautzmann S., Berg D., Gasser T., Wszolek Z., Muller T., Bornemann A., Wolburg H., Downward J., Riess O., Schulz J.B., and Kruger R. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum. Mol. Genet. 14 (2005) 2099-2111
23. Sutherland G.T., Siebert G.A., Newman J.R., Silburn P.A., Boyle R.S., O'Sullivan J.D., and Mellick G.D. Haplotype analysis of the PARK 11 gene, GIGYF2, in sporadic Parkinson's disease. Mov. Disord. 24 (2009) 449-452
24. Valente E.M., Bentivoglio A.R., Dixon P.H., Ferraris A., Ialongo T., Frontali M., Albanese A., and Wood N.W. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am. J. Hum. Genet. 68 (2001) 895-900
25. van Duijn C.M., Dekker M.C., Bonifati V., Galjaard R.J., Houwing-Duistermaat J.J., Snijders P.J., Testers L., Breedveld G.J., Horstink M., Sandkuijl L.A., van Swieten J.C., Oostra B.A., and Heutink P. Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am. J. Hum. Genet. 69 (2001) 629-634
26. Vilarino-Guell C., Ross O.A., Soto A.I., Farrer M.J., Haugarvoll K., Aasly J.O., Uitti R.J., and Wszolek Z.K. Reported mutations in GIGYF2 are not a common cause of Parkinson's disease. Mov. Disord. 24 (2009) 618-619
27. 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 (2005) 595-597
28. Zimprich A., Schulte C., Reinthaler E., Haubenberger D., Balzar J., Lichtner P., El Tawil S., Edris S., Foki T., Pirker W., Katzenschlager R., Daniel G., Brucke T., Auff E., and Gasser T. PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease. Parkinsonism Relat. Disord. (2009)