Analysis of genome-wide association studies of alzheimer disease and of parkinson disease to determine if these 2 diseases share a common genetic risk

JAMA Neurology

Volumn 70, Issue 10, 2013, Pages 1268-1276

  Moskvina, Valentina ^a   Harold, Denise ^a   Russo, Gian Carlo ^a   Vedernikov, Alexey ^a   Sharma, Manu ^b   Saad, Mohamad ^c,d   Holmans, Peter ^a   Bras, Jose M ^e   Bettella, Francesco ^f   Keller, Margaux F ^g   Nicolaou, Nayia ^h   Simón Sánchez, Javier ^h   Raphael Gibbs, J ^e,g   Schulte, Claudia ^b,i   Durr, Alexandra ^c,j,k   Guerreiro, Rita ^e   Hernandez, Dena ^e,g   Brice, Alexis ^c,j,k,l   Stefánsson, Hreinn ^f   Majamaa, Kari ^m   Gasser, Thomas ^b,i   Heutink, Peter ^h   Wood, Nick ^e,n   Martinez, Maria ^c,d   Singleton, Andrew B ^g   Nalls, Michael A ^g   Hardy, John ^e   Owen, Michael J ^a   O'Donovan, Michael C ^a   Williams, Julie ^a   Morris, Huw R ^a   Williams, Nigel M ^a   more..

^a CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c INSERM   (France)

^d UNIVERSITÉ PAUL SABATIER   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f DECODE GENETICS   (Iceland)

^g NATIONAL INSTITUTE ON AGING   (United States)

^h VU UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^j SORBONNE UNIVERSITÉ   (France)

^k PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^l CNRS   (France)

^m UNIVERSITY OF OULU   (Finland)

ⁿ UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; EVIDENCE BASED MEDICINE; FRANCE; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENOME ANALYSIS; GERMANY; HIGH RISK POPULATION; HUMAN; HUMAN GENOME; MAJOR CLINICAL STUDY; META ANALYSIS (TOPIC); PARKINSON DISEASE; PLEIOTROPY; PRIORITY JOURNAL; RISK ASSESSMENT; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM; UNITED STATES;

EID: 84885781056     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.448     Document Type: Article

References (36)

1. Nussbaum RL, Ellis CE. Alzheimer's disease and Parkinson's disease. N Engl J Med. 2003;348(14):1356-1364. (Pubitemid 36384104)
2. Corti O, Lesage S, Brice A. What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol Rev. 2011;91(4):1161-1218.
3. Marder K, Tang MX, Alfaro B, et al. Risk of Alzheimer's disease in relatives of Parkinson's disease patients with and without dementia. Neurology. 1999;52(4):719-724. (Pubitemid 29120173)
4. Levy G, Louis ED, Mejia-Santana H, et al. Lack of familial aggregation of Parkinson disease and Alzheimer disease. Arch Neurol. 2004;61(7):1033-1039. (Pubitemid 38915944)
5. Rocca WA, Bower JH, Ahlskog JE, et al. Risk of cognitive impairment or dementia in relatives of patients with Parkinson disease. Arch Neurol. 2007;64(10):1458-1464. (Pubitemid 47572669)
6. Hardy J, Selkoe DJ. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics [published correction appears in Science. 2002;297(5590):2209]. Science. 2002;297(5580):353-356. (Pubitemid 34790756)
7. Renton AE, Majounie E, Waite A, et al; ITALSGEN Consortium. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72(2):257-268.
8. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72(2): 245-256.
9. Harold D, Abraham R, Hollingworth P, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease [published correction appears in Nat Genet. 2009;41(10):1156]. Nat Genet. 2009;41(10):1088-1093.
10. Lambert JC, Heath S, Even G, et al; European Alzheimer's Disease Initiative Investigators. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet. 2009;41(10):1094- 1099.
11. Seshadri S, Fitzpatrick AL, Ikram MA, et al; CHARGE Consortium; GERAD1 Consortium; EADI1 Consortium. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010;303(18):1832-1840.
12. Hollingworth P, Harold D, Sims R, et al; Alzheimer's Disease Neuroimaging Initiative; CHARGE consortium; EADI1 consortium. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011;43(5):429-435.
13. Naj AC, Jun G, Beecham GW, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet. 2011;43(5):436-441.
14. Jones L, Holmans PA, Hamshere ML, et al. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One. 2010;5(11):e13950.
15. Nalls MA, Plagnol V, Hernandez DG, et al; International Parkinson Disease Genomics Consortium. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011;377(9766): 641-649.
16. Satake W, Nakabayashi Y, Mizuta I, et al. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet. 2009;41(12):1303-1307.
17. Spencer CCA, Plagnol V, Strange A, et al; UK Parkinson's Disease Consortium; Wellcome Trust Case Control Consortium 2. Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet. 2011;20(2):345-353.
18. Edwards TL, Scott WK, Almonte C, et al. Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet. 2010;74(2):97-109.
19. Simón-Sánchez J, Schulte C, Bras JM, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet. 2009;41(12):1308-1312.
20. Simón-Sánchez J, van Hilten JJ, van de Warrenburg B, et al. Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet. 2011;19(6):655-661.
21. International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet. 2011;7(6): e1002142.
22. Lippa CF, Pulaski-Salo D, Dickson DW, Smith TW. Alzheimer's disease, Lewy body disease and aging: a comparative study of the perforant pathway. J Neurol Sci. 1997;147(2):161-166. (Pubitemid 27132815)
23. Compta Y, Parkkinen L, O'Sullivan SS, et al. Lewy-and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important? Brain. 2011;134(pt 5):1493-1505.
24. Charlesworth G, Gandhi S, Bras JM, et al. Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging. 2012;33(4):838.e7-838.11.
25. Strobel G. The spectrum series: grappling with the overlap between Alzheimer's and Parkinson's diseases: 9th International Conference on Alzheimer's and Parkinson's Diseases, 11-15 March 2009, Prague, Czech Republic. J Alzheimers Dis. 2009;18(3):625-640.
26. Sutherland GT, Siebert GA, Kril JJ, Mellick GD. Knowing me, knowing you: can a knowledge of risk factors for Alzheimer's disease prove useful in understanding the pathogenesis of Parkinson's disease? J Alzheimers Dis. 2011;25(3):395-415.
27. Shulman JM, De Jager PL. Evidence for a common pathway linking neurodegenerative diseases. Nat Genet. 2009;41(12):1261-1262.
28. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 2009;5(6):e1000529.
29. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38(8): 904-909. (Pubitemid 44141658)
30. Devlin B, Roeder K. Genomic control for association studies. Biometrics. 1999;55(4):997-1004.
31. Freedman ML, Reich D, Penney KL, et al. Assessing the impact of population stratification on genetic association studies. Nat Genet. 2004;36(4):388-393. (Pubitemid 38437262)
32. Lin DY, Sullivan PF. Meta-analysis of genome-wide association studies with overlapping subjects. Am J Hum Genet. 2009;85(6):862-872.
33. Purcell SM, Wray NR, Stone JL, et al; International Schizophrenia Consortium. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;460(7256):748-752.
34. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559-575. (Pubitemid 47330214)
35. Moskvina V, O'Dushlaine C, Purcell S, Craddock N, Holmans P, O'Donovan MC. Evaluation of an approximation method for assessment of overall significance of multiple-dependent tests in a genomewide association study. Genet Epidemiol. 2011;35(8):861-866.
36. Simonson MA, Wills AG, Keller MC, McQueen MB. Recent methods for polygenic analysis of genome-wide data implicate an important effect of common variants on cardiovascular disease risk. BMC Med Genet. 2011;12:146.