High-resolution whole-genome association study of Parkinson disease

American Journal of Human Genetics

Volumn 77, Issue 5, 2005, Pages 685-693

  Maraganore, Demetrius M ^a   De Andrade, Mariza ^a   Lesnick, Timothy C ^a   Strain, Kari J ^a   Farrer, Matthew J ^b   Rocca, Walter A ^a   Pant, P V Krishna ^c   Frazer, Kelly A ^c   Cox, David R ^c   Ballinger, Dennis C ^c  

^a Mayo Clinic   (United States)

^b MAYO CLINIC   (United States)

^c Perlegen Sciences Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENOME; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; PARKINSON DISEASE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 27244451809     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/496902     Document Type: Article

References (52)

1. Artigiani S, Conrotto P, Fazzari P, Gilestro GF, Barberis D, Giordano S, Comoglio PM, Tamagnone L (2004) Plexin-B3 is a functional receptor for semaphorin 5A. EMBO Rep 5:710-714
2. Bacanu S-A, Devlin B, Roeder K (2000) The power of genomic control. Am J Hum Genet 66:1933-1944
3. Barzilai A, Zilkha-Falb R, Daily D, Stern N, Offen D, Ziv I, Melemed E, Shirvan A (2000) The molecular mechanism of dopamine-induced apoptosis: identification and characterization of genes that mediate dopamine toxicity. J Neural Transm Suppl 60:59-76
4. Benedetti MD, Maraganore DM, Bower JH, McDonnell SK, Peterson BJ, Ahlskog JE, Schaid DJ, Rocca WA (2001) Hysterectomy, menopause, and estrogen use preceding Parkinson's disease. Mov Disord 16:830-837
5. 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 (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299:256-259
6. Carlson CS, Eberle MA, Rieder MJ, Qian Y, Kruglyak L, Nickerson DA (2004) Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 74:106-120
7. Carlson CS, Eberle MA, Rieder MJ, Smith JD, Kruglyak L, Nickerson DA (2003) Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet 33:518-521
8. Carrel L, Willard HF (2005) X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-404
9. Dauer W, Przedborski S (2003) Parkinson's disease: mechanisms and models. Neuron 39:889-909
10. Dean FB, Hosono S, Fang L, Wu X, Faruqi AF, Bray-Ward P, Sun Z, Zong Q, Du Y, Du J, Driscoll M, Song W, Kingsmore SF, Egholm M, Lasken RS (2002) Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci USA 99:5261-5266
11. Devlin B, Bacanu S, Roeder K (2004) Genomic control to the extreme. Nat Genet 36:1129-1130
12. Devlin B, Roeder K (1999) Genomic control for association studies. Biometrics 55:997-1004
13. Elbaz A, Bower JH, Maraganore DM, McDonnell SK, Peterson BJ, Ahlskog JE, Schaid DJ, Rocca WA (2002) Risk tables for parkinsonism and Parkinson's disease. J Clin Epidemiol 55:25-31
14. Elbaz A, Peterson BJ, Bower JH, Yang P, Maraganore DM, McDonnell SK, Ahlskog JE, Rocca WA (2005) Risk of cancer after the diagnosis of Parkinson's disease: a historical cohort study. Mov Disord 20:719-725
15. Farrer M, Maraganore DM, Lockhart P, Singleton A, Lesnick TG, de Andrade M, West A, de Silva R, Hardy J, Hernandez D (2001) α-Synuclein gene haplotypes are associated with Parkinson's disease. Hum Mol Genet 10:1847-1851
16. Hicks AA, Petursson H, Jonsson T, Stefansson H, Johannsdottir HS, Sainz J, Frigge ML, Kong A, Gulcher JR, Stefansson K, Sveinbjornsdottir S (2002) A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann Neurol 52:549-555
17. Hinds DA, Stokowski RP, Patil N, Konvicka K, Kershenobich D, Cox DR, Ballinger DG (2004) Matching strategies for genetic association studies in structured populations. Am J Hum Genet 74:317-325
18. Hinds DA, Stuve LL, Nilsen GB, Halperin E, Eskin E, Ballinger DG, Frazer KA, Cox DR (2005) Whole-genome patterns of common DNA variation in three human populations. Science 307:1072-1079
19. Hirsch E, Hu LJ, Prignet A, Constatin B, Agid Y, Drabkin H, Roche J (1999) Distribution of semaphorin IV in adult human brain. Brain Res 823:67-79
20. Hirschhorn JN, Daly MJ (2005) Genome-wide association studies of common diseases and complex traits. Nat Rev Genet 6:95-108
21. Kawano H, Horie M, Honma S, Kawamura K, Takeuchi K, Kimura S (2003) Aberrant trajectory of ascending dopaminergic pathway in mice lacking Nkx2.1. Exp Neurol 182:103-112
22. Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K, Tanaka T (2001) The human mitochondrial ribosomal protein genes: mapping of 54 genes to chromosomes and implications for human disorders. Genomics 77:65-70
23. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605-608
24. Klein RJ, Zeiss C, Chew EY, Tsai J-Y, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385-389
25. Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH (1998) The ubiquitin pathway in Parkinson's disease. Nature 395:451-452
26. Li Y-J, Scott WK, Hedges DJ, Zhang F, Gaskell PC, Nance MA, Watts RL, et al (2002) Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet 70:985-993
27. Mamah CE, Lesnick TG, Lincoln SJ, Strain KJ, de Andrade M, Bower JH, Ahlskog JE, Rocca WA, Farrer MJ, Maraganore DM (2005) Interaction of α-synuclein and tau genotypes in Parkinson's disease. Ann Neurol 57:439-443
28. Maraganore DM (2005) Blood is thicker than water: the strengths of family-based case-control studies. Neurology 64:408-409
29. Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin M-C, Gasser T, Kruger R, Hattori N, Mellick GD, Quattrone A, Satoh J-I, Toda T, Wang J, Ioannidis JPA, de Andrade M, Rocca WA, the UCHL1 Global Genetics Consortium (2004) UCHL1 is a Parkinson's disease susceptibility locus. Ann Neurol 55:512-521
30. Martens JA, Laprade L, Winston F (2004) Intergenic transcription is required to repress the Sacharomyces cerevisiae SER3 gene. Nature 429:571-574
31. Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC, Lyons K, et al (2001) Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson's disease. JAMA 286:2245-2250
32. Mueller JC, Fuchs J, Hofer A, Zimprich A, Lichtner P, Illig T, Berg D, Wullner U, Meitinger T, Gasser T (2005) Multiple regions of α-synuclein are associated with Parkinson's disease. Ann Neurol 57:535-541
33. Olivier M, Bustos VI, Levy MR, Smick GA, Moreno I, Bushard JM, Almendras AA, Sheppard K, Zierten DL, Aggarwal A, Carlson CS, Foster BD, Vo N, Kelly L, Liu X, Cox DR (2001) Complex high-resolution linkage disequilibrium and haplotype patterns of single-nucleotide polymorphisms in 2.5 Mb of sequence on human chromosome 21. Genomics 78:64-72
34. Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Schults C, Conneally PM, Foroud T, the Parkinson Study Group (2003) Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet 72:1053-1057
35. Patil N, Berno AJ, Hinds DA, Barrett WA, Doshi JM, Hacker CR, Kautzer CR, Lee DH, Majoribanks C, McDonough DP, Nguyen BTN, Norric MC, Sheehan JB, Shen N, Stern D, Stokowski RP, Thomas DJ, Trulson MO, Vyas KR, Frazer KA, Fodor SPA, Cox DR (2001) Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294:1719-1723
36. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehajia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276:2045-2047
37. Prestel J, Sharma M, Leitner P, Zimprich A, Vaughan JR, Durr A, Bonifati V, De Michele G, Hanagasi HA, Farrer M, Hofer A, Asmus F, Volpe G, Meco G, Brice A, Wood NW, Muller-Myhsok B, Gasser T, the European Consortium on Genetic Susceptibility in Parkinson's Disease (2005) PARK11 is not linked with Parkinson's disease in European families. Eur J Hum Genet 13:193-197
38. Pritchard JK, Przeworski M (2001) Linkage disequilibrium in humans: models and data. Am J Hum Genet 69:1-14
39. Rocca WA, Maraganore DM, McDonnell SK, Schaid DJ (1998) Validation of a telephone questionnaire for Parkinson's disease. J Clin Epidemiol 51:517-523
40. Rocca WA, McDonnell SK, Strain KJ, Bower JH, Ahlskog JE, Elbaz A, Schaid DJ, Maraganore DM (2004) Familial aggregation of Parkinson's disease: the Mayo Clinic Family Study. Ann Neurol 56:495-502
41. Schaid DJ, Rowland C (1998) Use of parents, sibs, and unrelated controls for detection of associations between genetic markers and disease. Am J Hum Genet 63:1492-1506
42. Shirvan A, Shina R, Ziv I, Melamed E, Barzilai A (2000) Induction of neuronal apoptosis by semaphorin3A-derived peptide. Mol Brain Res 83:81-93
43. Shirvan A, Ziv I, Fleminger G, Shina R, He Z, Brudo I, Melamed E, Barzilai A (1999) Semaphorins as mediators of neuronal apoptosis. J Neurochem 73:961-971
44. Simmons AD, Puschel AW, McPherson JD, Overhauser J, Lovett M (1998) Molecular cloning and mapping of human semaphorin F from the cri-du-chat candidate interval. Biochem Biophys Res Commun 242:685-91
45. Storey JD, Tibshirani R (2003) Statistical significance for genomewide studies. Proc Natl Acad Sci USA 100:9440-9445
46. Tatton WG, Chalmers-Redman R, Brown D, Tatton N (2003) Apoptosis in Parkinson's disease: signals for neuronal degeneration. Ann Neurol 53:S61-S72
47. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MMK, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Corelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304:1158-1160
48. Wang WYS, Barratt BJ, Clayton DG, Todd JA (2005) Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet 6:109-118
49. West AB, Maraganore D, Crook J, Lesnick T, Lockhart PJ, Wilkes KM, Kapatos G, Hardy JA, Farrer MJ (2002) Functional association of the parkin gene promoter with idiopathic Parkinson's disease. Hum Mol Genet 11:2787-2792
50. Wirdefeldt K, Gatz M, Schalling M, Pedersen NL (2004) No evidence for heritability of Parkinson disease in Swedish twins. Neurology 63:305-311
51. Yasuhara T, Shingo T, Kobayashi K, Takeuchi A, Yano A, Muraoka K, Matsui T, Miyoshi Y, Hamada H, Date I (2004) Neuroprotective effects of vascular endothelial growth factor (VEGF) upon dopaminergic neurons in a rat model of Parkinson's disease. Eur J Neurosci 19:1494-1504
52. Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Muller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44:601-607