Association study of SCARB2 rs6812193 polymorphism with Parkinson's disease in Han Chinese

被引：15

作者：

Chen, Shuai ^{[1
,2
]}

Zhang, Yu ^{[1
,2
]}

Chen, Wei ^{[1
,2
]}

Wang, Ying ^{[1
,2
]}

Liu, Jun ^{[1
,2
]}

Rong, Tian-Yi ^{[1
,2
]}

Ma, Jian-Fang ^{[1
,2
]}

Wang, Gang ^{[1
,2
]}

Zhang, Jing ^{[1
,2
]}

Pan, Jing ^{[1
,2
]}

Xiao, Qin ^{[1
,2
]}

Chen, Sheng-Di ^{[1
,2
,3
,4
]}

机构：

[1] Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Dept Neurol, Shanghai 200025, Peoples R China

[2] Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Inst Neurol, Shanghai 200025, Peoples R China

[3] Shanghai Jiao Tong Univ, Sch Med, Shanghai 200025, Peoples R China

[4] Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Neurodegenerat Dis, Shanghai 200025, Peoples R China

来源：

NEUROSCIENCE LETTERS | 2012年 / 516卷 / 01期

关键词：

Parkinson's disease; SNP; SCARB2; Association study; MUTATIONS; GENE; VARIANTS;

D O I：

10.1016/j.neulet.2012.03.035

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Recently, a nucleotide polymorphism rs6812193 near SCARB2 was found to be significantly associated with Parkinson's disease (PD) in populations of European ancestry. Herein, we conducted a case-control study with attempt to further evaluate the association between SNP rs6812193 and PD in a Chinese population from mainland China. rs6812193 was genotyped by PCR-RFLP technique in 449 PD patients and 452 controls in a Chinese population. In our study, we did not detect statistically significant differences between cases and controls in terms of both allele and genotype distribution of the rs6812193 polymorphism (P=0.97 and P=0.77, respectively), even after stratification by age at onset. Our data do not support the association of SNP rs6812193 with PD in Han Chinese of mainland China. (C) 2012 Elsevier Ireland Ltd. All rights reserved.

引用

页码：21 / 23

页数：3

共 14 条

[1]

[Anonymous], PLOS GENET

[2] Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis [J].

Berkovic, Samuel E. ;

Dibbens, Leanne M. ;

Oshlack, Alicia ;

Silver, Jeremy D. ;

Katerelos, Marina ;

Vears, Danya F. ;

Luellmann-Rauch, Renate ;

Blanz, Judith ;

Zhang, Ke Wei ;

Stankovich, Jim ;

Kalnins, Renate M. ;

Dowling, John P. ;

Andermann, Eva ;

Andermann, Frederick ;

Faldini, Enrico ;

D'Hooge, Rudi ;

Vadlamudi, Lata ;

Macdonell, Richard A. ;

Hodgson, Bree L. ;

Bayly, Marta A. ;

Savige, Judy ;

Mulley, John C. ;

Smyth, Gordon K. ;

Power, David A. ;

Saftig, Paul ;

Bahlo, Melanie .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (03) :673-684

[3] Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase [J].

Blanz, Judith ;

Groth, Johann ;

Zachos, Christina ;

Wehling, Christina ;

Saftig, Paul ;

Schwake, Michael .

HUMAN MOLECULAR GENETICS, 2010, 19 (04) :563-572

[4] Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease [J].

Do, Chuong B. ;

Tung, Joyce Y. ;

Dorfman, Elizabeth ;

Kiefer, Amy K. ;

Drabant, Emily M. ;

Francke, Uta ;

Mountain, Joanna L. ;

Goldman, Samuel M. ;

Tanner, Caroline M. ;

Langston, J. William ;

Wojcicki, Anne ;

Eriksson, Nicholas .

PLOS GENETICS, 2011, 7 (06)

[5] Parkinson's disease: clinical features and diagnosis [J].

Jankovic, J. .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2008, 79 (04) :368-376

[6] Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease [J].

Michelakakis, Helen ;

Xiromerisiou, Georgia ;

Dardiotis, Efthimios ;

Bozi, Maria ;

Vassilatis, Demetrios ;

Kountra, Persa-Maria ;

Patramani, Gianna ;

Moraitou, Marina ;

Papadimitriou, Dimitra ;

Stamboulis, Eleftherios ;

Stefanis, Leonidas ;

Zintzaras, Elias ;

Hadjigeorgiou, Georgios M. .

MOVEMENT DISORDERS, 2012, 27 (03) :400-405

[7] Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies [J].

Nalls, Michael A. ;

Plagnol, Vincent ;

Hernandez, Dena G. ;

Sharma, Manu ;

Sheerin, Una-Marie ;

Saad, Mohamad ;

Simon-Sanchez, Javier ;

Schulte, Claudia ;

Lesage, Suzanne ;

Sveinbjornsdottir, Sigurlaug ;

Arepalli, Sampath ;

Barker, Roger ;

Ben-Shlomo, Yoav ;

Berendse, Henk W. ;

Berg, Daniela ;

Bhatia, Kailash ;

de Bie, Rob M. A. ;

Biffi, Alessandro ;

Bloem, Bas ;

Bochdanovits, Zoltan ;

Bonin, Michael ;

Bras, Jose M. ;

Brockmann, Kathrin ;

Brooks, Janet ;

Burn, David J. ;

Charlesworth, Gavin ;

Chen, Honglei ;

Chinnery, Patrick F. ;

Chong, Sean ;

Clarke, Carl E. ;

Cookson, Mark R. ;

Cooper, J. Mark ;

Corvol, Jean Christophe ;

Counsell, Carl ;

Damier, Philippe ;

Dartigues, Jean-Francois ;

Deloukas, Panos ;

Deuschl, Guenther ;

Dexter, David T. ;

van Dijk, Karin D. ;

Dillman, Allissa ;

Durif, Frank ;

Duerr, Alexandra ;

Edkins, Sarah ;

Evans, Jonathan R. ;

Foltynie, Thomas ;

Gao, Jianjun ;

Gardner, Michelle ;

Gibbs, J. Raphael ;

Goate, Alison .

LANCET, 2011, 377 (9766) :641-649

[8] Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase [J].

Ramirez, Alfredo ;

Heimbach, Andre ;

Gruendemann, Jan ;

Stiller, Barbara ;

Hampshire, Dan ;

Cid, L. Pablo ;

Goebel, Ingrid ;

Mubaidin, Ammar F. ;

Wriekat, Abdul-Latif ;

Roeper, Jochen ;

Al-Din, Amir ;

Hillmer, Axel M. ;

Karsak, Meliha ;

Liss, Birgit ;

Woods, C. Geoffrey ;

Behrens, Maria I. ;

Kubisch, Christian .

NATURE GENETICS, 2006, 38 (10) :1184-1191

[9] Lysosomal function in macromolecular homeostasis and bioenergetics in Parkinson's disease [J].

Schneider, Lonnie ;

Zhang, Jianhua .

MOLECULAR NEURODEGENERATION, 2010, 5

[10] Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease [J].

Sidransky, E. ;

Nalls, M. A. ;

Aasly, J. O. ;

Aharon-Peretz, J. ;

Annesi, G. ;

Barbosa, E. R. ;

Bar-Shira, A. ;

Berg, D. ;

Bras, J. ;

Brice, A. ;

Chen, C. -M. ;

Clark, L. N. ;

Condroyer, C. ;

De Marco, E. V. ;

Duerr, A. ;

Eblan, M. J. ;

Fahn, S. ;

Farrer, M. J. ;

Fung, H. -C. ;

Gan-Or, Z. ;

Gasser, T. ;

Gershoni-Baruch, R. ;

Giladi, N. ;

Griffith, A. ;

Gurevich, T. ;

Januario, C. ;

Kropp, P. ;

Lang, A. E. ;

Lee-Chen, G. -J. ;

Lesage, S. ;

Marder, K. ;

Mata, I. F. ;

Mirelman, A. ;

Mitsui, J. ;

Mizuta, I. ;

Nicoletti, G. ;

Oliveira, C. ;

Ottman, R. ;

Orr-Urtreger, A. ;

Pereira, L. V. ;

Quattrone, A. ;

Rogaeva, E. ;

Rolfs, A. ;

Rosenbaum, H. ;

Rozenberg, R. ;

Samii, A. ;

Samaddar, T. ;

Schulte, C. ;

Sharma, M. ;

Singleton, A. .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 361 (17) :1651-1661

← 1 2 →