Association study between SMPD1 p.L302P and sporadic Parkinson’s disease in ethnic Chinese population

International Journal of Clinical and Experimental Medicine

Volumn 8, Issue 8, 2015, Pages 13869-13873

  Li, Kai ^a   Tang, Bei Sha ^a,b,c   Yang, Nan Nan ^a   Kang, Ji Feng ^a   Liu, Zhen Hua ^a   Liu, Rui Qi ^a   Yan, Xin Xiang ^a,c   Shen, Lu ^a,c   Guo, Ji Feng ^a,b,c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b State Key Laboratory of Medical Genetics   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Ethnic Chinese population; p.L302P; Parkinson s disease; SMPD1; SNP

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHINESE; CONTROLLED STUDY; ETHNICITY; FEMALE; GENETIC ASSOCIATION; GENOTYPING TECHNIQUE; HUMAN; MAJOR CLINICAL STUDY; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; PARKINSON DISEASE; SEQUENCE ANALYSIS; SPORADIC PARKINSON DISEASE;

EID: 84943627548     PISSN: None     EISSN: 19405901     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Dorsey ER, Constantinescu R, Thompson JP, Biglan KM, Holloway RG, Kieburtz K, Marshall FJ, Ravina BM, Schifitto G, Siderowf A, Tanner CM. Projected number of people with Parkinson disease in the most populous nations, 2005 through 2030. Neurology 2007; 68: 384-386.
2. Spatola M, Wider C. Genetics of Parkinson’s disease: the yield. Parkinsonism Relat Disord 2014; 20 Suppl 1: S35-S38.
3. Bonifati V. Genetics of Parkinson’s disease--state of the art, 2013. Parkinsonism Relat Disord 2014; 20 Suppl 1: S23-S28.
4. Puschmann A. Monogenic Parkinson’s disease and parkinsonism: clinical phenotypes and frequencies of known mutations. Parkinsonism Relat Disord 2013; 19: 407-415.
5. Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2013; 80: 1606-1610.
6. Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Durr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease. N Engl J Med 2009; 361: 1651-1661.
7. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-184.
8. Sun QY, Guo JF, Wang L, Yu RH, Zuo X, Yao LY, Pan Q, Xia K, Tang BS. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson’s disease in Chinese population. Mov Disord 2010; 25: 1005-1011.
9. Buetow KH, Edmonson M, MacDonald R, Clifford R, Yip P, Kelley J, Little DP, Strausberg R, Koester H, Cantor CR, Braun A. High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Proc Natl Acad Sci U S A 2001; 98: 581-584.
10. Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP, Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L. Comprehensive research synopsis and systematic meta-analyses in Parkinson’s disease genetics: The PDGene database. PLoS Genet 2012; 8: e1002548.
11. Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simon-Sanchez J, Schulte C, Lesage S, Sveinbjornsdottir S, Stefansson K, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW. Imputation of sequence variants for identification of genetic risks for Parkinson’s disease: a meta-analysis of genome-wide association studies. Lancet 2011; 377: 641-649.
12. Sharma N. Lysosomal enzyme defects and Parkinson disease. Neurology 2013; 80: 1544-1545.
13. Trinh J, Farrer M. Advances in the genetics of Parkinson disease. Nat Rev Neurol 2013; 9: 445-454.
14. Wu RM, Lin CH, Lin HI. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2014; 82: 283.
15. Wang C, Cai Y, Zheng Z, Tang BS, Xu Y, Wang T, Ma J, Chen SD, Langston JW, Tanner CM, Chan P. Penetrance of LRRK2 G2385R and R1628P is modified by common PD-associated genetic variants. Parkinsonism Relat Disord 2012; 18: 958-963.
16. Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson’s disease. Nat Genet 2009; 41: 1303-1307.
17. Foo JN, Liany H, Bei JX, Yu XQ, Liu J, Au WL, Prakash KM, Tan LC, Tan EK. Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson’s disease. Neurobiol Aging 2013; 34: 2813-2890.