Genome-wide genotyping in Parkinson's disease and neurologically normal controls:: first stage analysis and public release of data

被引:300
作者
Fung, Hon-Chung
Scholz, Sonja
Matarin, Mar
Simon-Sanchez, Javier
Hernandez, Dena
Britton, Angela
Gibbs, J. Raphael
Langefeld, Carl
Stiegert, Matt L.
Schymick, Jennifer
Okun, Michael S.
Mandel, Ronald J.
Fernandez, Hubert H.
Foote, Kelly D.
Rodriguez, Ramon L.
Peckham, Elizabeth
De Vrieze, Fabienne Wavrant
Gwinn-Hardy, Katrina
Hardy, John A.
Singleton, Andrew [1 ]
机构
[1] NIA, Mol Genet Unit, NIH, Computat Biol Core, Bethesda, MD 20892 USA
[2] Wake Forest Univ, Dept Publ Hlth Sci, Biostat Sect, Winston Salem, NC 27109 USA
[3] Univ Florida, Movement Disorders Ctr, Dept Neurol, Gainesville, FL 32611 USA
[4] Univ Florida, Movement Disorders Ctr, Dept Neurosci, Gainesville, FL 32611 USA
[5] Univ Florida, Movement Disorders Ctr, Dept Neurosurg, Gainesville, FL 32611 USA
[6] Natl Inst Neurol Disorders & Stroke, NIH, Bethesda, MD USA
[7] CSIC, Inst Biomed Valencia, Unitat Genet Mol, Dept Genom & Proteom, E-46010 Valencia, Spain
[8] Chang Gung Univ, Chang Gung Mem Hosp, Dept Neurol, Taipei, Taiwan
[9] Chang Gung Univ, Coll Med, Taipei, Taiwan
[10] UCL, Reta Lila Weston Inst Neurol Studies, London WC1E 6BT, England
基金
英国医学研究理事会;
关键词
D O I
10.1016/S1474-4422(06)70578-6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Background Several genes underlying rare monogenic forms of Parkinson's disease have been identified over the past decade. Despite evidence for a role for genetics in sporadic Parkinson's disease, few common genetic variants have been unequivocally linked to this disorder. We sought to identify any common genetic variability exerting a large effect in risk for Parkinson's disease in a population cohort and to produce publicly available genome-wide genotype data that can be openly mined by interested researchers and readily augmented by genotyping of additional repository subjects. Methods We did genome-wide, single-nucleotide-polymorphism (SNP) genotyping of publicly available samples from a cohort of Parkinson's disease patients (n=267) and neurologically normal controls (n=270). More than 408 000 unique SNPs were used from the Iflumina Infinium, I and HumanHap300 assays. Findings We have produced around 220 million genotypes in 537 participants. This raw genotype data has been publicly posted and as such is the first publicly accessible high-density SNP data outside of the International HapMap Project. We also provide here the results of genotype and allele association tests. Interpretation We generated publicly available genotype data for Parkinson's disease patients and controls so that these data can be mined and augmented by other researchers to identify common genetic variability that results in minor and moderate risk for disease.
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页码:911 / 916
页数:6
相关论文
共 22 条
[1]   Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism [J].
Bonifati, V ;
Rizzu, P ;
van Baren, MJ ;
Schaap, O ;
Breedveld, GJ ;
Krieger, E ;
Dekker, MCJ ;
Squitieri, F ;
Ibanez, P ;
Joosse, M ;
van Dongen, JW ;
Vanacore, N ;
van Swieten, JC ;
Brice, A ;
Meco, G ;
van Duijn, CM ;
Oostra, BA ;
Heutink, P .
SCIENCE, 2003, 299 (5604) :256-259
[2]   Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease [J].
Clarimon, J ;
Scholz, S ;
Fung, HC ;
Hardy, J ;
Eerola, J ;
Hellström, O ;
Chen, CM ;
Wu, YR ;
Tienari, PJ ;
Singleton, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (06) :1082-1084
[3]   Prevalence of Parkinson's disease in the elderly: The Rotterdam study [J].
deRijk, MC ;
Breteler, MMB ;
Graveland, GA ;
Ott, A ;
Grobbee, DE ;
vanderMeche, FGA ;
Hofman, A .
NEUROLOGY, 1995, 45 (12) :2143-2146
[4]   Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease:: a large-scale international study [J].
Elbaz, Alexis ;
Nelson, Lorene M. ;
Payami, Haydeh ;
Ioannidis, John P. A. ;
Fiske, Brian K. ;
Annesi, Grazia ;
Belin, Andrea Carmine ;
Factor, Stewart A. ;
Ferrarese, Carlo ;
Hadjigeorgiou, Georgios M. ;
Higgins, Donald S. ;
Kawakami, Hideshi ;
Krueger, Rejko ;
Marder, Karen S. ;
Mayeux, Richard P. ;
Mellick, George D. ;
Nutt, John G. ;
Ritz, Beate ;
Samii, Ali ;
Tanner, Caroline M. ;
Van Broeckhoven, Christine ;
Van Den Eeden, Stephen K. ;
Wirdefeldt, Karin ;
Zabetian, Cyrus P. ;
Dehem, Marie ;
Montimurro, Jennifer S. ;
Southwick, Audrey ;
Myers, Richard M. ;
Trikalinos, Thomas A. .
LANCET NEUROLOGY, 2006, 5 (11) :917-923
[5]  
Falush D, 2003, GENETICS, V164, P1567
[6]   Genomewide association, Parkinson disease, and PARK10 [J].
Farrer, Matthew J. ;
Haugarvoll, Kristoffer ;
Ross, Owen A. ;
Stone, Jeremy T. ;
Whittle, Andrew J. ;
Lincoln, Sarah J. ;
Hulihan, Mary M. ;
Heckman, Michael G. ;
White, Linda R. ;
Aasly, Jan O. ;
Gibson, J. Mark ;
Gosal, David ;
Lynch, Timothy ;
Wszolek, Zbigniew K. ;
Uitti, Ryan J. ;
Toft, Mathias .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (06) :1084-1088
[7]   The International HapMap Project [J].
Gibbs, RA ;
Belmont, JW ;
Hardenbol, P ;
Willis, TD ;
Yu, FL ;
Yang, HM ;
Ch'ang, LY ;
Huang, W ;
Liu, B ;
Shen, Y ;
Tam, PKH ;
Tsui, LC ;
Waye, MMY ;
Wong, JTF ;
Zeng, CQ ;
Zhang, QR ;
Chee, MS ;
Galver, LM ;
Kruglyak, S ;
Murray, SS ;
Oliphant, AR ;
Montpetit, A ;
Hudson, TJ ;
Chagnon, F ;
Ferretti, V ;
Leboeuf, M ;
Phillips, MS ;
Verner, A ;
Kwok, PY ;
Duan, SH ;
Lind, DL ;
Miller, RD ;
Rice, JP ;
Saccone, NL ;
Taillon-Miller, P ;
Xiao, M ;
Nakamura, Y ;
Sekine, A ;
Sorimachi, K ;
Tanaka, T ;
Tanaka, Y ;
Tsunoda, T ;
Yoshino, E ;
Bentley, DR ;
Deloukas, P ;
Hunt, S ;
Powell, D ;
Altshuler, D ;
Gabriel, SB ;
Qiu, RZ .
NATURE, 2003, 426 (6968) :789-796
[8]   No evidence for association with Parkinson disease for 13 single-nucleotide polymorphisms identified by whole-genome association screening [J].
Goris, A. ;
Williams-Gray, C. H. ;
Foltynie, T. ;
Compston, D. A. S. ;
Barker, R. A. ;
Sawcer, S. J. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (06) :1088-1090
[9]  
International HapMap Consortium, 2005, NATURE, V437, P1299, DOI DOI 10.1038/NATURE04226
[10]   Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism [J].
Kitada, T ;
Asakawa, S ;
Hattori, N ;
Matsumine, H ;
Yamamura, Y ;
Minoshima, S ;
Yokochi, M ;
Mizuno, Y ;
Shimizu, N .
NATURE, 1998, 392 (6676) :605-608