Copy number variation in familial parkinson disease

PLoS ONE

Volumn 6, Issue 8, 2011, Pages

  Pankratz, Nathan ^a   Dumitriu, Alexandra ^b   Hetrick, Kurt N ^c   Sun, Mei ^d,e   Latourelle, Jeanne C ^b   Wilk, Jemma B ^b   Halter, Cheryl ^a   Doheny, Kimberly F ^c   Gusella, James F ^d,e   Nichols, William C ^f,g   Myers, Richard H ^b   Foroud, Tatiana ^a   DeStefano, Anita L ^b,h  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^g UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^h BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE RICH REPEAT KINASE 2; PARKIN;

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE PREDISPOSITION; FEMALE; GEL ELECTROPHORESIS; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE REPLICATION; GENETIC ASSOCIATION; HETEROZYGOSITY LOSS; HUMAN; LYMPHOBLAST; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PARKINSON DISEASE; QUALITY CONTROL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; ALGORITHM; GENETICS; MUTATION; POLYMERASE CHAIN REACTION; VARIABLE NUMBER OF TANDEM REPEAT;

ALGORITHMS; DNA COPY NUMBER VARIATIONS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MINISATELLITE REPEATS; MUTATION; PARKINSON DISEASE; POLYMERASE CHAIN REACTION;

EID: 79960989179     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0020988     Document Type: Article

References (25)

1. Feuk L, Carson AR, Scherer SW, (2006) Structural variation in the human genome. Nat Rev Genet 7: 85-97.
2. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al. (2007) Strong association of de novo copy number mutations with autism. Science 316: 445-449.
3. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, et al. (2009) Common variants conferring risk of schizophrenia. Nature 460: 744-747.
4. Need AC, Ge D, Weale ME, Maia J, Feng S, et al. (2009) A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 5: e1000373.
5. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, et al. (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320: 539-543.
6. Pankratz N, Foroud T, (2007) Genetics of Parkinson disease. Genet Med 9: 801-811.
7. Klein C, Pramstaller PP, Kis B, Page CC, Kann M, et al. (2000) Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 48: 65-71.
8. Farrer M, Chan P, Chen R, Tan L, Lincoln S, et al. (2001) Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 50: 293-300.
9. Foroud T, Uniacke SK, Liu L, Pankratz N, Rudolph A, et al. (2003) Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 60: 796-801.
10. Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, et al. (2006) Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 63: 826-832.
11. Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, et al. (2009) Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. Neurology 73: 279-286.
12. Wang K, Li M, Hadley D, Liu R, Glessner J, et al. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674.
13. Colella S, Yau C, Taylor JM, Mirza G, Butler H, et al. (2007) QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res 35: 2013-2025.
14. Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, et al. (2008) Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat 29: 315-322.
15. Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, et al. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 464: 713-720.
16. Pankratz N, Wilk JB, Latourelle JC, Destefano AL, Halter C, et al. (2009) Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 124: 593-605.
17. Gibb WR, Lees AJ, (1988) The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry 51: 745-752.
18. Gunderson KL, Steemers FJ, Ren H, Ng P, Zhou L, et al. (2006) Whole-genome genotyping. Methods Enzymol 410: 359-376.
19. Karamohamed S, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, et al. (2005) Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study. Mov Disord 20: 1188-1191.
20. Nichols WC, Elsaesser VE, Pankratz N, Pauciulo MW, Marek DK, et al. (2007) LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8. Neurology 69: 1737-1744.
21. Nichols WC, Uniacke SK, Pankratz N, Reed T, Simon DK, et al. (2004) Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease. Mov Disord 19: 649-655.
22. Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, et al. (2006) Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease. Mov Disord 21: 2257-2260.
23. Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, et al. (2006) Mutations in DJ-1 are rare in familial Parkinson disease. Neurosci Lett 408: 209-213.
24. Pankratz N, Nichols WC, Elsaesser VE, Pauciulo MW, Marek DK, et al. (2009) Alpha-synuclein and familial Parkinson's disease. Mov Disord 24: 1125-1131.
25. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.