Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity

JAMA

Volumn 280, Issue 7, 1998, Pages 614-618

  Rogaeva, Ekaterina ^a,c   Premkumar, Smita ^d   Song, Youqiang ^a,c   Sorbi, Sandro ^e   Brindle, Nicholas ^a,c   Paterson, Andrew ^b   Duara, Ranjan ^f   Levesque, Georges ^a,c   Yu, Gang ^a,c   Nishimura, Masaki ^a,c   Ikeda, Masaki ^a,c   O'Toole, Colleen ^a,c   Kawarai, Toshitaka ^a,c   Jorge, Ricardo ^g   Vilarino, Daniel ^g   Bruni, Amalia C ^h   Farrer, Lindsay A ^d   St George Hyslop, Peter H ^a,b,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY HEALTH NETWORK   (Canada)

^d BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF FLORENCE   (Italy)

^f MOUNT SINAI MEDICAL CENTER   (United States)

^g UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^h Ctro Regionale Neurogenetica ASL 6   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ALZHEIMER DISEASE; ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 12; CHROMOSOME MARKER; DNA DETERMINATION; FAMILIAL DISEASE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC RISK; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; MULTIGENE FAMILY; PRIORITY JOURNAL;

EID: 0032547369     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.280.7.614     Document Type: Article

References (44)

1. Katzman R. Alzheimer's disease. N Engl J Med. 1986;314:964-973.
2. Goate A, Chartier-Harlin M-C, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 1991;349:704-706.
3. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 1995;375: 754-760.
4. Rogaeva EI, Sherrington R, Rogaeva EA, 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. Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 1995;269:973-977.
6. Strittmatter WJ, Saunders AM, Schmechel D, et al. Apolipoprotein E: high avidity binding to β-amyloid and increased frequency of type ∈4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A. 1993;90:1977-1981.
7. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology. 1993;43:1467-1472.
8. Chartier-Harlin MC, Parfitt M, Legrain S, et al. Apolipoprotein E, epsilon 4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region. Hum Mol Genet. 1994;3:569-574.
9. Okuizumi K, Onodera O, Tanaka H, et al. ApoE-epsilon 4 and early-onset Alzheimer's. Nat Genet. 1994;7:10-11.
10. van Duijn CM, de Knijff P, Cruts M, et al. Apolipoprotein ∈4 allele in a population-based study of early-onset Alzheimer's disease. Nat Genet. 1994;7: 74-78.
11. Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type ∈4 allele and the risk of Alzheimer's disease in late onset families. Science. 1993;261:921-923.
12. Corder EH, Saunders AM, Risch NJ, et al. Protective effect of apolipoprotein E type ∈2 allele for late onset Alzheimer disease. Nat Genet. 1994;7:180-184.
13. Farrer LA, Cupples LA, Haines JL, et al. Effects of age, gender, and ethnicity on the association of apolipoprotein E genotype and Alzheimer disease: a meta-analysis. JAMA. 1997;278:1349-1356.
14. Roses AD, Devlin B, Conneally PM, et al. Measuring the genetic contribution of APOE in late-onset Alzheimer disease (AD) [abstract]. Am J Hum Genet. 1995;57:A202.
15. Pericak-Vance MA, Bass MP, Yamaoka LH, et al. Complete genomic screen in late-onset familial Alzheimer disease: evidence for a new locus on chromosome 12. JAMA. 1997;278:1237-1241.
16. Khachaturian ZS. Diagnosis of Alzheimer disease. Arch Neurol. 1985;42:1097-1105.
17. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer disease: report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer Disease. Neurology. 1984;34:939-944.
18. Gearing M, Mirra SS, Hedreen JC, Sumi SM, Hansen LA, Heyman A. The Consortium to Establish a Registry for Alzheimer Disease (CERAD), X: neuropathologic confirmation of the clinical diagnosis of Alzheimer disease. Neurology. 1995;45:461-466.
19. Karlinsky H, Vaula G, Haines JL, et al. Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer disease and a missense mutation in codon 717 of the β-amyloid precursor protein (APP) gene. Neurology. 1992;42: 1445-1453.
20. Mullan MJ, Crawford F, Axelman K, et al. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of B-amyloid. Nat Genet. 1992;1:345-347.
21. St George-Hyslop P, Haines JL, Rogaeva EI, et al. Genetic evidence for a novel familial Alzheimer disease gene on chromosome 14. Nat Genet. 1992;2: 330-334.
22. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and non-parametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 1996;58:1347-1363.
23. Clerget-Darpoux F, Bonalti-Pellie C, Hochez J. Effects of misspecifiying genetic parameters in lod score analysis. Biometrics. 1986;42:393-399.
24. Risch N, Claus E, Giuffra L. Linkage and mode of inheritance of complex traits. In: Multipoint Mapping and Linkage Based on Affected Pedigree Members: Genetic Analysis Workshop 6. New York, NY: Alan R Liss; 1991:183-188.
25. Farrer LA, Stice L. Susceptibility genes for familial Alzheimer disease on chromosomes 19 and 21: a reality check. Genet Epidemiol. 1993;10:425-430.
26. Farrer LA, Myers RH, Cupples LA, et al. Transmission and age at onset patterns in familial Alzheimer disease: evidence for heterogeneity. Neurology. 1990;40:395-403.
27. Hodge SE, Anderson CE, Neiswanger K, Sparkes RS, Rimoin DL. The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity. Am J Hum Genet. 1983:35:1139-1155.
28. Smith CAB. Testing for heterogeneity of recombination values in human genetics. Ann Hum Genet. 1963;27:175-182.
29. Ott J. Analysis of Human Genetic Linkage. Baltimore, Md: Johns Hopkins University Press; 1991.
30. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995;11:241-247.
31. Terwilliger JD, Ott A. Handbook of Human Genetic Linkage. Baltimore, Md: Johns Hopkins University Press; 1994.
32. Susuki N, Cheung TT, Cai X-D, et al. An increased percentage of long amyloid B protein secreted by familial amyloid B protein precursor (BAPP717) mutants. Science. 1994;264:1336-1340.
33. Citron M, Oltersdorf T, Haass C, et al. Mutation of the B-amyloid precursor protein in familial Alzheimer's disease increases B-protein production. Nature. 1992;360:672-674.
34. Haass C, Hung AY, Selkoe DJ, Teplow DB. Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid B-protein precursor. J Biol Chem. 1994; 269:17741-17748.
35. Duff K, Eckman CB, Zehr C, et al. Increased amyloid beta 42(43) in brains of mice expressing mutant presenilin 1. Nature. 1996;383:710-713.
36. Borchelt DR, Thinakaran G, Eckman CB, et al. Familial Alzheimer's disease linked presenilin 1 variants elevate A-beta 1-42/1-40 ratio in vitro and in vivo. Neuron. 1996;17:1005-1013.
37. Citron M, Westaway D, Xia W, et al. Mutant presenilins of Alzheimer's disease increase production of 42 residue amyloid B-protein in both transfected cells and transgenic mice. Nature Med. 1997;3:67-72.
38. Fagan AM, Bu G, Sun Y, Daugherty A, Holtzman DM. Apolipoprotein E containing high density lipoprotein promotes neurite outgrowth and is a ligand for the low density lipoprotein receptor-related protein. J Biol Chem. 1996;71:30121-30125.
39. Knauer MF, Orlando RA, Glabe CG. Cell surface APP751 forms complexes with protease nexin 2 ligands and is internalized via the low density lipoprotein receptor-related protein (LRP). Brain Res. 1996;740:6-14.
40. Kounnas MZ, Moir RD, Rebeck GW, et al. LDL receptor related protein, a multifunctional ApoE receptor binds secreted βAPP and mediates its degradation. Cell. 1994;82:331-340.
41. Wavrant-DeVrieze F, Perez-Tur J, Lambert JC, et al. Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease. Neurosci Lett. 1997;227:68-70.
42. Lendon CL, Talbot CJ, Craddock NJ, et al. Genetic association studies between dementia of the Alzheimer's type and three receptors for apolipoprotein E in a Caucasian population. Neurosci Lett. 1997;222:187-190.
43. Kang DE, Saitoh T, Chen X, et al. Genetic association of the low density lipoprotein receptor-related protein gene (LRP), an apolipoprotein E receptor, with late onset Alzheimer's disease. Neurology. 1997;49:56-61.
44. Scott WK, Yamaoka LH, Pritchard ML, et al. No genetic association between LRP receptor and sporadic or late-onset Alzheimer disease. Neurogenetics. In press.