Genetic association analysis between TDP-43 polymorphisms and alzheimer's disease in a japanese population

Dementia and Geriatric Cognitive Disorders

Volumn 28, Issue 4, 2009, Pages 325-329

  Shibata, Nobuto ^a   Ohnuma, Tohru ^a   Baba, Hajime ^a   Arai, Heii ^a  

^a JUNTENDO UNIVERSITY   (Japan)

Author keywords

Alzheimer's disease; Apolipoprotein E; Polymorphism; TDP 43

Indexed keywords

APOLIPOPROTEIN E; TAR DNA BINDING PROTEIN;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; ALZHEIMER DISEASE; APOLIPOPROTEINS E; CASE-CONTROL STUDIES; DATABASES, GENETIC; DNA; DNA-BINDING PROTEINS; FEMALE; GENE FREQUENCY; HUMANS; INTRONS; JAPAN; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 70350157751     PISSN: 14208008     EISSN: None     Source Type: Journal    
DOI: 10.1159/000251194     Document Type: Article

References (22)

1. Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, et al: TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 2008; 7: 409-416.
2. Hasegawa M, Arai T, Nonaka T, Kametani F, Yoshida M, Hashizume Y, et al: Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol 2008; 64: 60-70.
3. Seelaar H, Schelhaas HJ, Azmani A, Kusters B, Rosso S, Majoor-Krakauer D, et al: TDP- 43 pathology in familial frontotemporal dementia and motor neuron disease without progranulin mutations. Brain 2007; 130: 1375-1385.
4. Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, et al: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008; 40: 572-574.
5. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al: TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008; 319: 1668-1672.
6. Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ: TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS ONE 2008; 3:e2450.
7. Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, et al: TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 2008; 63: 535-538.
8. Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, et al: TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol 2008; 63: 538-542.
9. Amador-Ortiz C, Lin WL, Ahmed Z, Personett D, Davies P, Duara R, et al: TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol 2007; 61: 435-445.
10. Higashi S, Iseki E, Yamamoto R, Minegishi M, Hino H, Fujisawa K, et al: Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies. Brain Res 2007; 1184: 284-294.
11. Hu WT, Josephs KA, Knopman DS, Boeve BF, Dickson DW, Petersen RC, Parisi JE: Temporal lobar predominance of TDP-43 neuronal cytoplasmic inclusions in Alzheimer disease. Acta Neuropathol 2008; 116: 215-220.
12. Jellinger KA: Neuropathological aspects of Alzheimer disease, Parkinson disease and frontotemporal dementia. Neurodegener Dis 2008; 5: 118-121.
13. Uryu K, Nakashima-Yasuda H, Forman MS, Kwong LK, Clark CM, Grossman M, et al: Concomitant tar-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. J Neuropathol Exp Neurol 2008; 67: 555-564.
14. Josephs KA, Whitwell JL, Knopman DS, Hu WT, Stroh DA, Baker M, et al: Abnormal TDP-43 immunoreactivity in ad modifies clinicopathologic and radiologic phenotype. Neurology 2008; 70: 1850-1857.
15. Wenham PR, Newton CR, Price WH: Analysis of apolipoprotein e genotypes by the amplification refractory mutation system. Clin Chem 1991; 37: 241-244.
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. Verpillat P, Camuzat A, Hannequin D, Thomas-Anterion C, Puel M, Belliard S, et al: Association between the extended tau haplotype and frontotemporal dementia. Arch Neurol 2002; 59: 935-939. (Pubitemid 34640753)
18. Sobrido MJ, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, et al: Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia. Arch Neurol 2003; 60: 698-702.
19. Schumacher A, Friedrich P, Diehl-Schmid J, Ibach B, Perneczky R, Eisele T, et al: No association of TDP-43 with sporadic frontotemporal dementia. Neurobiol Aging 2007.
20. Wider C, Wszolek ZK: Etiology and pathophysiology of frontotemporal dementia, Parkinson disease and Alzheimer disease: lessons from genetic studies. Neurodegener Dis 2008; 5: 122-125.
21. Rohn TT: Caspase-cleaved tar DNA-binding protein-43 is a major pathological finding in Alzheimer's disease. Brain Res 2008; 1228: 189-198.
22. Dormann D, Capell A, Carlson AM, Shankaran SS, Rodde R, Neumann M, et al: Proteolytic processing of tar DNA binding protein- 43 by caspases produces c-terminal fragments with disease defining properties independent of progranulin. J Neurochem 2009; 110: 1082-1094.