Excess of rare coding variants in PLD3 in late-but not early-onset Alzheimer’s disease

Human Genome Variation

Volumn 2, Issue 1, 2015, Pages

  Schulte, Eva C ^a,b   Kurz, Alexander ^a   Alexopoulos, Panagiotis ^a   Hampel, Harald ^c   Peters, Annette ^b   Gieger, Christian ^b   Rujescu, Dan ^d   Diehl Schmid, Janine ^a   Winkelmann, Juliane ^a,b,e,f,g  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c SORBONNE UNIVERSITÉ   (France)

^d MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^f Technische Universität München Munich Cluster for Systems Neurology   (Germany)

^g STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84926313732     PISSN: None     EISSN: 2054345X     Source Type: Journal    
DOI: 10.1038/HGV.2014.28     Document Type: Article

References (19)

1. Hardy J, Bogdanovic N, Winblad B, Portelius E, Andreasen N, Cedazo-Minguez A et al. Pathways to Alzheimer's disease. J Internal Med 2014; 275: 296–303.
2. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995; 375: 754–760.
3. Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature 1991; 353: 844–846.
4. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995; 376: 775–778.
5. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991; 349: 704–706.
6. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genet 2009; 41: 1088–1093.
7. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genet 2011; 43: 429–435.
8. Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genet 2011; 43: 436–441.
9. Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature Genet 2013; 45: 1452–1458.
10. Medway C, Morgan K. Review: the genetics of Alzheimer's disease; putting flesh on the bones. Neuropathol Appl Neurobiol 2014; 40: 97–105.
11. Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 2014; 505: 550–554.
12. Wichmann HE, Gieger C, Illig TGroup MKS. KORA-gen—resource for population genetics, controls and a broad spectrum of disease phenotypes. Gesundheitswesen 2005; 67(Suppl 1): S26–S30.
13. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998; 51: 1546–1554.
14. Purcell S, Cherny SS, Sham PC.. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003; 19: 149–150.
15. Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K et al. C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA Neurol 2013; 70: 736–741.
16. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H et al. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393: 702–705.
17. Pastor P, Ezquerra M, Munoz E, Martí MJ, Blesa R, Tolosa E et al. Significant association between the tau gene A0/A0 genotype and Parkinson's disease. Ann Neurol 2000; 47: 242–245.
18. Hunt RC, Simhadri VL, Iandoli M, Sauna ZE, Kimchi-Sarfaty C. Exposing synonymous mutations. Trends Genet 2014; 30: 308–321.
19. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37: e67.