Genome-wide estimate of the heritability of Multiple System Atrophy

Parkinsonism and Related Disorders

Volumn 22, Issue , 2016, Pages 35-41

  Federoff, M ^a,b   Price, T R ^a   Sailer, A ^b   Scholz, S ^a,c   Hernandez, D ^a   Nicolas, A ^a   Singleton, A B ^a   Nalls, M ^a   Houlden, H ^b  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

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

Author keywords

Atypical parkinsonisms; Genetics; Multiple System Atrophy

Indexed keywords

ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ERROR; GENE LINKAGE DISEQUILIBRIUM; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SHY DRAGER SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; PARKINSON DISEASE;

CASE-CONTROL STUDIES; COHORT STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MULTIPLE SYSTEM ATROPHY; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84952873610     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2015.11.005     Document Type: Article

References (24)

1. Nalls M.A., Pankratz N., Lill C.M., Do C.B., Hernandez D.G., Saad M., et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat. Genet. 2014, 46:989-993.
2. Höglinger G.U., Melhem N.M., Dickson D.W., Sleiman P.M.A., Wang L.-S., Klei L., et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat. Genet. 2011, 43:699-705.
3. Ferrari R., Hernandez D.G., Nalls M.A., Rohrer J.D., Ramasamy A., Kwok J.B.J., et al. Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol. 2014, 13:686-699.
4. Van Deerlin V.M., Sleiman P.M.A., Martinez-Lage M., Chen-Plotkin A., Wang L.-S., Graff-Radford N.R., et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat. Genet. 2010, 42:234-239.
5. Lambert J.C., Ibrahim-Verbaas C.A., Harold D., Naj A.C., Sims R., Bellenguez C., et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat. Genet. 2013, 45:1452-1458.
6. Lee S.H., Wray N.R., Goddard M.E., Visscher P.M. Estimating missing heritability for disease from genome-wide association studies. Am. J. Hum. Genet. 2011, 88:294-305.
7. Yang J., Lee S.H., Goddard M.E., Visscher P.M. GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 2011, 88:76-82.
8. Ahmed Z., Asi Y.T., Sailer A., Lees A.J., Houlden H., Revesz T., et al. The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol. Appl. Neurobiol. 2012, 38:4-24.
9. Bower J.H., Maraganore D.M., McDonnell S.K., Rocca W.A. Incidence of progressive supranuclear palsy and multiple system atrophy in Olmsted County, Minnesota, 1976 to 1990. Neurology 1997, 49:1284-1288.
10. Osaki Y., Ben-Shlomo Y., Lees A.J., Wenning G.K., Quinn N.P. A validation exercise on the new consensus criteria for multiple system atrophy. Mov. Disord. Off. J. Mov. Disord. Soc. 2009, 24:2272-2276.
11. Potashkin J.A., Santiago J.A., Ravina B.M., Watts A., Leontovich A.A. Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients. PloS One 2012, 7:e43595.
12. Keller M.F., Saad M., Bras J., Bettella F., Nicolaou N., Simón-Sánchez J., et al. Using genome-wide complex trait analysis to quantify "missing heritability" in Parkinson's disease. Hum. Mol. Genet. 2012, 21:4996-5009.
13. Keller M.F., Ferrucci L., Singleton A.B., Tienari P.J., Laaksovirta H., Restagno G., et al. Genome-wide analysis of the heritability of amyotrophic lateral sclerosis. JAMA Neurol. 2014, 71:1123-1134.
14. Al-Chalabi A., Fang F., Hanby M.F., Leigh P.N., Shaw C.E., Ye W., et al. An estimate of amyotrophic lateral sclerosis heritability using twin data. J. Neurol. Neurosurg. Psychiatry 2010, 81:1324-1326.
15. Wirdefeldt K., Gatz M., Reynolds C.A., Prescott C.A., Pedersen N.L. Heritability of Parkinson disease in Swedish twins: a longitudinal study. Neurobiol. Aging 2011, 32. 1923.e1-8.
16. Osaki Y., Wenning G.K., Daniel S.E., Hughes A., Lees A.J., Mathias C.J., et al. Do published criteria improve clinical diagnostic accuracy in multiple system atrophy?. Neurology 2002, 59:1486-1491.
17. Yang J., Benyamin B., McEvoy B.P., Gordon S., Henders A.K., Nyholt D.R., et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 2010, 42:565-569.
18. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A.R., Bender D., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 2007, 81:559-575.
19. Laurie C.C., Doheny K.F., Mirel D.B., Pugh E.W., Bierut L.J., Bhangale T., et al. Quality control and quality assurance in genotypic data for genome-wide association studies. Genet. Epidemiol. 2010, 34:591-602.
20. Li Y., Willer C., Sanna S., Abecasis G. Genotype imputation. Annu. Rev. Genomics Hum. Genet. 2009, 10:387-406.
21. Li Y., Willer C.J., Ding J., Scheet P., Abecasis G.R. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 2010, 34:816-834.
22. Howie B., Fuchsberger C., Stephens M., Marchini J., Abecasis G.R. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat. Genet. 2012, 44:955-959.
23. Poewe W., Wenning G. The differential diagnosis of Parkinson's disease. Eur. J. Neurol. Off. J. Eur. Fed. Neurol. Soc. 2002, 9(Suppl 3):23-30.
24. Quinn N.P. How to diagnose multiple system atrophy. Mov. Disord. Off. J. Mov. Disord. Soc. 2005, 20(Suppl 12):S5-S10.