The ones marked * may be different from the article in the profile. Bazire S. ... Tanzi M.G. This allows for a significant reduction of the number of phenocopies in study populations using published research criteria, and thereby increases the power of subsequent genetic or epidemiological analyses. (, Horikawa, Y., Oda, N., Cox, N.J., Li, X., Orho-Melander, M., Hara, M., Hinokio, Y., Lindner, T.H., Mashima, H., Schwarz, P.E. This has been demonstrated in various studies examining familial segregation of the disease over the past decades (1–3). While most positive results were largely contradictory, we identified three loci—on chromosomes 6p21, 10q24, 11q23—that yielded positive results in three or more independent studies, in addition to the well-established AD association with the gene encoding apolipoprotein E (APOE). (, Boussaha, M., Hannequin, D., Verpillat, P., Brice, A., Frebourg, T. and Campion, D. (, Johansson, A., Hampel, H., Faltraco, F., Buerger, K., Minthon, L., Bogdanovic, N., Sjogren, M., Zetterberg, H., Forsell, L., Lilius, L. et al. It is interesting that, regardless of these estimates, ∼20% of all studies published in 2003 have still used smaller sample sizes and thus are probably not suitable for use in reaching any reliable conclusion. ‘Locus’ is defined as chromosomal interval of ≤5 Mb. New articles by this author. Add co-authors Co-authors. Tag: Rudolph Tanzi. Finally, the progressive neurodegeneration gradually leading to cognitive decline and dementia in AD patients exhibits distinct and well-established histopathological features upon post-mortem examination, allowing for the verification of ‘clinical’ AD (5). These are in addition to the ‘classic’ requirements of at least plausible biological and/or positional candidacy for any investigated locus, as well as direct proof of pathophysiological consequences of any positive disease association. Sr. (, Rasmusson, D.X., Brandt, J., Steele, C., Hedreen, J.C., Troncoso, J.C. and Folstein, M.F. Most interestingly—and in contrast to all other putative AD associations discussed above—there appears to be a high degree of consistency with respect to the site and allelic nature underlying these findings: all positive studies, including the initial report by Nowotny and colleagues published in 2001 (62), observe over-representations of the G-allele of a synonymous SNP located at codon 262 (in exon 5) in AD cases as compared with healthy controls. Their combined citations are counted only for the first article. (, Ioannidis, J.P., Ntzani, E.E., Trikalinos, T.A. Quelli contrassegnati con * possono essere diversi dall'articolo nel profilo. Before 2003, there were two papers published showing allelic association with microsatellite markers in this region (53,54), while two reports did not find association with IDE variants or nearby markers and AD (55,56). Here, we review all 90 studies from 2003 reporting a total of 127 association findings between candidate genes and AD. 2 Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129, USA. In addition to the IDE locus, a total of four other genes on the long arm of chromosome 10 were found to be associated with AD. This "Cited by" count includes citations to the following articles in Scholar. Clearly, more studies on independent samples of sufficient size are necessary to further elucidate the potential role of IDE variants on the development of AD in the more general population. (, Scott, W.K., Hauser, E.R., Schmechel, D.E., Welsh-Bohmer, K.A., Small, G.W., Roses, A.D., Saunders, A.M., Gilbert, J.R., Vance, J.M., Haines, J.L. However, it must be pointed out that one of these only studied early-onset familial AD cases (63), and the remaining studies did not account for the potential interaction with the APOE ε4-allele (64–66). Search. Metrics details. PDF Restore Delete Forever. Add co-authors Co-authors. 2 and autism, Treatment with a copper-zinc chelator markedly and rapidly inhibits β-amyloid accumulation in Alzheimer's disease transgenic mice, Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease, Insulin-degrading enzyme regulates the levels of insulin, amyloid β-protein, and the β-amyloid precursor protein intracellular domain in vivo, The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene, The genetic defect causing familial Alzheimer's disease maps on chromosome 21, Mapping autism risk loci using genetic linkage and chromosomal rearrangements, Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease, The Aβ peptide of Alzheimer's disease directly produces hydrogen peroxide through metal ion reduction, Dramatic aggregation of Alzheimer Aβ by Cu (II) is induced by conditions representing physiological acidosis, Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Google Scholar provides a simple way to broadly search for scholarly literature. Genetics and Aging Research Unit, Department of Neurology and MassGeneral Institute for Neurodegenerative Diseases, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA . While none of these associations has yet been confirmed in independent AD samples, it is noteworthy that two of these genes were also found to be associated in other neurodegenerative illnesses, frontotemporal dementia (CDC2) (57) and Parkinson's disease (GSTO1/2) (58), potentially suggesting a more common pathway leading to neuronal cell death across these syndromes. PubMed. Merged citations. Rudolph E. Tanzi, PhD Massachusetts General Hospital Massachusetts General Hospital Phone: (617) 726-6845 Fax: (617) 724-1949 firstname.lastname@example.org Two other potential AD candidates map within this 5 Mb interval, the genes encoding the hereditary haemochromatosis protein (HFE, at ∼26 Mb) and the tumor necrosis factor alpha (TNFA, at ∼31 Mb). Thus, while these are all plausible AD candidate genes on positional as well as biological/biochemical grounds, further studies are still necessary to elucidate their proposed roles in influencing the risk and/or age-at-onset for AD in the general population. PDF Restore Delete Forever. Changning Wang, 0000-0002-2076-4193 Changning Wang Conceptualization, Funding acquisition, Investigation, Project administration, Resources, Supervision 1. A literature search for association studies with any of these genes including the years before 2003 yielded at least 15 positive studies, while 10 reports found no evidence of a genetic involvement of these factors. At the Massachusetts General Hospital (MGH), Dr. Tanzi serves as the Vice-Chair of Neurology (Research) and Director of the Genetics and Aging Research Unit , which consists of eight laboratories investigating the genetic causes of Alzheimer's disease. 5,365,081 books books; 77,518,212 articles articles; ZLibrary Home; Home; Toggle navigation. You are currently offline. (, Conrad, C., Andreadis, A., Trojanowski, J.Q., Dickson, D.W., Kang, D., Chen, X., Wiederholt, W., Hansen, L., Masliah, E., Thal, L.J. While the year 2003 has been extremely productive in terms of studies examining potential associations between candidate genes and AD phenotypes, the vast majority of results—as in previous years—remains controversial. (, Olson, J.M., Goddard, K.A. (, Rioux, J.D., Daly, M.J., Silverberg, M.S., Lindblad, K., Steinhart, H., Cohen, Z., Delmonte, T., Kocher, K., Miller, K., Guschwan, S. et al. Early in his career, Dr. Tanzi worked with Dr. James Gusella to discover the first … This may be crucial, since the latter study only found a significant effect of IDE on AD risk in individuals lacking the APOE ε4-allele. Google Scholar. Semantic Scholar's Logo. (, Oxford University Press is a department of the University of Oxford. You are currently offline. Two of these (CDC2 and VR22) map ∼30 Mb proximal of IDE, while the other two (GSTO1/2 and PRSS11) map 10–30 Mb distal. PubMed. (, Culpan, D., MacGowan, S.H., Ford, J.M., Nicoll, J.A., Griffin, W.S., Dewar, D., Cairns, N.J., Hughes, A., Kehoe, P.G. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer’s disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer’s disease Their combined citations are counted only for the first article. and Dudek, D.M. (, Shi, J., Zhang, S., Tang, M., Liu, X., Li, T., Wang, Y., Han, H., Guo, Y., Hao, Y., Zheng, K. et al. Rao, V.S., Cupples, A., van Duijn, C.M., Kurz, A., Green, R.C., Chui, H., Duara, R., Auerbach, S.A., Volicer, L., Wells, J. et al. The following articles are merged in Scholar. Google Scholar Rudolph E. Tanzi. DR Rosen, T Siddique, D Patterson, DA Figlewicz, P Sapp, A Hentati, ... R Sherrington, EI Rogaev, Y Liang, EA Rogaeva, G Levesque, M Ikeda, ... E Levy-Lahad, W Wasco, P Poorkaj, DM Romano, J Oshima, ... D Scheuner, C Eckman, M Jensen, X Song, M Citron, N Suzuki, TD Bird, ... JF Gusella, NS Wexler, PM Conneally, SL Naylor, MA Anderson, ... RE Tanzi, JF Gusella, PC Watkins, GA Bruns, P St George-Hyslop, ... L Bertram, MB McQueen, K Mullin, D Blacker, RE Tanzi. aStudies that do not fulfill these criteria, but show some evidence for linkage or association in the same chromosomal intervals. and Rubinsztein, D.C. (, Nicolaou, M., Song, Y.Q., Sato, C.A., Orlacchio, A., Kawarai, T., Medeiros, H., Liang, Y., Sorbi, S., Richard, E., Rogaev, E.I. New articles related to this author's research. Numbers assigned to linkage studies represent LOD scores. et al. AI Bush, WH Pettingell, G Multhaup, M d Paradis, JP Vonsattel, JF Gusella, ... LA Weiss, Y Shen, JM Korn, DE Arking, DT Miller, R Fossdal, ... New England Journal of Medicine 358 (7), 667-675. Genetics and Aging Research Unit, Department of Neurology and MassGeneral Institute for Neurodegenerative Diseases, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA. App on your PC, Android, iOS devices ; article ; Google Scholar provides a simple to! 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