A genome-wide association study in multiple system atrophy

Neurology

Volumn 87, Issue 15, 2016, Pages 1591-1598

  Sailer, Anna ^a,c   Scholz, Sonja W ^d,e,f,g   Nalls, Michael A ^d   Schulte, Claudia ^h   Federoff, Monica ^d   Price, T Ryan ^d   Lees, Andrew ^a   Ross, Owen A ⁱ   Dickson, Dennis W ⁱ   Mok, Kin ^a,j   Mencacci, Niccolo E ^a   Schottlaender, Lucia ^a   Chelban, Viorica ^a   Ling, Helen ^a   O'Sullivan, Sean S ^a   Wood, Nicholas W ^a   Traynor, Bryan J ^d   Ferrucci, Luigi ^d   Federoff, Howard J ^f   Mhyre, Timothy R ^f   Morris, Huw R ^b   Deuschl, Günther ^k   Quinn, Niall ^b   Widner, Hakan ^l   Albanese, Alberto ^m   Infante, Jon ⁿ   Bhatia, Kailash P ^b   Poewe, Werner ^o   Oertel, Wolfgang ^p   Höglinger, Günter U ^h,q   Wüllner, Ullrich ^r   Goldwurm, Stefano ^s   Pellecchia, Maria Teresa ^t   Ferreira, Joaquim ^u   Tolosa, Eduardo ^v   Bloem, Bastiaan R ^w   Rascol, Olivier ^x   Meissner, Wassilios G ^y,z   Hardy, John A ^a   Revesz, Tamas ^a   Holton, Janice L ^a   Gasser, Thomas ^h   Wenning, Gregor K ^o   Singleton, Andrew B ^d   Houlden, Henry ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^f GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g JOHNS HOPKINS HOSPITAL   (United States)

^h GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

ⁱ MAYO GRADUATE SCHOOL   (United States)

^j HONG KONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Hong Kong)

^k UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^l LUND UNIVERSITY HOSPITAL   (Sweden)

^m UNIVERSITÀ CATTOLICA DEL SACRO CUORE   (Italy)

ⁿ HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^o INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^p PHILIPPS UNIVERSITY MARBURG   (Germany)

^q TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^r UNIVERSITY HOSPITAL BONN   (Germany)

^s PARKINSON INSTITUTE   (Italy)

^t UNIVERSITY OF SALERNO   (Italy)

^u INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^v UNIVERSITY OF BARCELONA   (Spain)

^w RADBOUD UNIVERSITY   (Netherlands)

^x TOULOUSE UNIVERSITY HOSPITAL   (France)

^y BORDEAUX UNIVERSITY HOSPITAL   (France)

^z UNIVERSITÉ DE BORDEAUX   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; COQ2 PROTEIN; ELOVL7 PROTEIN; ENDOTHELIN 1; FBXO47 PROTEIN; MESSENGER RNA; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG; 4-HYDROXYBENZOATE POLYPRENYLTRANSFERASE; SNCA PROTEIN, HUMAN; TRANSFERASE;

ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; EUROPEAN; FEMALE; FOLLOW UP; FRONTAL CORTEX; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC RISK; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; NORTH AMERICAN; PATHOGENESIS; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SHY DRAGER SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; BRAIN; CAUCASIAN; CLINICAL TRIAL; COHORT ANALYSIS; EUROPE; GENE LOCUS; GENETICS; GENOTYPING TECHNIQUE; METABOLISM; PATHOLOGY; UNITED STATES;

ALKYL AND ARYL TRANSFERASES; ALPHA-SYNUCLEIN; BRAIN; COHORT STUDIES; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUES; HUMANS; MULTIPLE SYSTEM ATROPHY; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; UNITED STATES;

EID: 84992046812     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000003221     Document Type: Article

References (40)

1. Hara K, Momose Y, Tokiguchi S, et al. Multiplex families with multiple system atrophy. Arch Neurol 2007;64:545-551.
2. Soma H, Yabe I, Takei A, Fujiki N, Yanagihara T, Sasaki H. Heredity in multiple system atrophy. J Neurol Sci 2006;240:107-110.
3. Wullner U, Schmitt I, Kammal M, Kretzschmar HA, Neumann M. Definite multiple system atrophy in a German family. J Neurol Neurosurg Psychiatry 2009;80:449-450.
4. Vidal JS, Vidailhet M, Derkinderen P, Tzourio C, Alperovitch A. Familial aggregation in atypical Parkinson's disease: a case control study in multiple system atrophy and progressive supranuclear palsy. J Neurol 2010;257: 1388-1393.
5. Wakabayashi K, Yoshimoto M, Tsuji S, Takahashi H. Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy. Neurosci Lett 1998; 249:180-182.
6. Galvin JE, Lee VM, Trojanowski JQ. Synucleinopathies: clinical and pathological implications. Arch Neurol 2001; 58:186-190.
7. Simon-Sanchez J, Schulte C, Bras JM, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 2009;15:15.
8. Scholz SW, Houlden H, Schulte C, et al. SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol 2009;65:610-614.
9. Vilarino-Guell C, Soto-Ortolaza AI, Rajput A, et al. MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy. Neurology 2011;76:670-672.
10. Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med 2013;369:233-244.
11. Sharma M, Wenning G, Kruger R; European Multiple-System Atrophy Study Group. Mutant COQ2 in multiplesystem atrophy. N Engl J Med 2014;371:80-81.
12. Schottlaender LV, Houlden H;Multiple-System Atrophy Brain Bank Collaboration. Mutant COQ2 in multiple-system atrophy. N Engl J Med 2014;371:81.
13. Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 2008;71:670-676.
14. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-678.
15. Ferrucci L, Bandinelli S, Benvenuti E, et al. Subsystems contributing to the decline in ability to walk: bridging the gap between epidemiology and geriatric practice in the InCHIANTI study. J Am Geriatr Soc 2000;48:1618-1625.
16. Chio A, Schymick JC, Restagno G, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2009;18:1524-1532.
17. FederoffM, Price TR, Sailer A, et al. Genome-wide estimate of the heritability of multiple system atrophy. Parkinsonism Relat Disord 2016;22:35-41.
18. Li Y, Willer C, Sanna S, Abecasis G. Genotype imputation. Annu Rev Genomics Hum Genet 2009;10:387-406.
19. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010;34: 816-834.
20. Gibbs JR, van der Brug MP, Hernandez DG, et al. Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet 2010;6: e1000952.
21. Nalls MA, Pankratz N, Lill CM, et al. Large-scale metaanalysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet 2014;46:989-993.
22. Al-Chalabi A, Durr A, Wood NW, et al. Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy. PLoS One 2009;4:e7114.
23. Ross OA, Vilarino-Guell C, Wszolek ZK, Farrer MJ, Dickson DW. Reply to: SNCA variants are associated with increased risk of multiple system atrophy. Ann Neurol 2010;67:414-415.
24. Hoglinger GU, Melhem NM, Dickson DW, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 2011; 43:699-705.
25. Hollingworth P, Harold D, Sims R, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 2011;43:429-435.
26. Arinami T, Ishikawa M, Inoue A, et al. Chromosomal assignments of the human endothelin family genes: the endothelin-1 gene (EDN1) to 6p23-p24, the endothelin-2 gene (EDN2) to 1p34, and the endothelin-3 gene (EDN3) to 20q13.2-q13.3. Am J Hum Genet 1991;48: 990-996.
27. MacCumber MW, Ross CA, Snyder SH. Endothelin in brain: receptors, mitogenesis, and biosynthesis in glial cells. Proc Natl Acad Sci USA 1990;87:2359-2363.
28. Leonard AE, Pereira SL, Sprecher H, Huang YS. Elongation of long-chain fatty acids. Prog Lipid Res 2004;43:36-54.
29. Janssen RJ, Distelmaier F, Smeets R, et al. Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder. Hum Mol Genet 2009;18:3365-3374.
30. Simon-Kayser B, Scoul C, Renaudin K, et al. Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma. Genes Chromosomes Cancer 2005;43:83-94.
31. Deger JM, Gerson JE, Kayed R. The interrelationship of proteasome impairment and oligomeric intermediates in neurodegeneration. Aging Cell 2015;14:715-724.
32. Yun JY, Lee WW, Lee JY, Kim HJ, Park SS, Jeon BS. SNCA variants and multiple system atrophy. Ann Neurol 2010;67:554-555.
33. International HapMap Consortium. A haplotype map of the human genome. Nature 2005;437:1299-1320.
34. Concannon C, Lahue RS. The 26S proteasome drives trinucleotide repeat expansions. Nucleic Acids Res 2013;41: 6098-6108.
35. Kim HJ, Jeon BS, Shin J, et al. Should genetic testing for SCAs be included in the diagnostic workup for MSA? Neurology 2014;83:1733-1738.
36. Lin IS, Wu RM, Lee-Chen GJ, Shan DE, Gwinn-Hardy K. The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. Parkinsonism Relat Disord 2007;13:246-249.
37. Martin I, Kim JW, Lee BD, et al. Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease. Cell 2014;157:472-485.
38. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-1517.
39. International Parkinson Disease Genomics Consortium, Nalls MA, Plagnol V, Hernandez DG, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 2011;377:641-649.
40. Koga S, Aoki N, Uitti RJ, et al. When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients. Neurology 2015;85:404-412.