A692G E693G D694N A713T FAD

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1 R741 A doi /j. issn β EO Aβ SP NP APP APP 21q NFT APP EO 170 kb 770 APP LO LO 94% 7 1α F S EO α γ F LO S APPsAPPα P3Aβ Aβ APP α Aβ16 ~ 1 17 Aβ SP 2β β- β γ sappβ AβAβ 40 Aβ 42 APP -1PSEN1-2PSEN2 APP 2 3 LO α β 4 APOE LO 5 Aβ 40 Aβ 42 Aβ APOE LO Aβ LO 1 Aβ LO 8 1 APP 21q A692G E693G D694N A713T PSEN1 14q24. 3 Phe105Val Pro117Arg His163Arg PS-1 PSEN2 1q31-42 A85V PS-2 APOE 19q13. 2 APOE _ε2 /3 /4 CLU 8p21 rs MAPT 17q21. 3 rs tau CR1 1q32 rs SORL1 11q23. 2-q24. 2 rs APP Aβ TOMM40 19q rs PLAU 10q22. 2 rs upa Aβ CALHM1 10q rs rs Ca APP APP A692G E693G D694N A713TF CAA No. 2003z APP A673V PSEN1 PSEN2 PSENl 14q ~ PS-1 PSEN2 1q ~ 12

2 PS PSEN tau MAPT PSEN2 http/ /www. molgen. vib-ua. be /Mutations / PSEN2 tau MAPT taumapt 17q kb ~ 90 mrna 6 tau 13 PSEN1 N 0 ~ 2 C 3 ~ 4 14 PSEN1 27 NFT NFT 4 Phe105Val 5 PHF tau 28 Pro117Arg Glu120Gly 6 His163Arg 7 tau Leu226Phe 8 Val261Leu Val272Ala Leu282Arg 12 Ile439Ser H1 H2 H2 Kumar 15 20% ~ 30% PSEN1 Aβ 42 Aβ 40 Aβ Aβ 40 E120G PSEN EO 1. 2 LO LO 133 kb TATA CR1 60% ~ 80% 17 Bertram 18 LO AlzGene Aβ C3b http/ /www. alzgene. org / CR1 C3b Aβ C3b Aβ E ApoEApoE CR q kb4 3 6 ε2 /2 ε3 /3 ε4 /4 ε2 /3 ε2 /4 ε3 /4 ApoEε CR1 CR1 CSF ApoEε4 LO CR1 19 ε2 ε3 ApoEε4 ε4 Aβ Aβ CR1 LCR 20 Kim 21 ApoE 2 ~ 3 MAPT H1 31 MAPT CR1CR1 1q32 38 T rs P = OR = CNV CR1 CR1-F CR1-S CR1-S 30% CLU CLU 8p sortilin SORL1SORL1 ApoE Aβ Aβ SNP SORL1 SNP S 22 ApoJ CLU SORL1 S 39 ~ 42 SORL1 rs T /C ~ Clusterin JApoJ SORL1 LR11 11q23. 2-q kb J SORL1 APP Aβ SORL1 CLU Aβ Aβ Rogaeva 38 CLU 6 SORL1 CLU SNP 5' Rogae- 38 S 23 rs CLU va 16% 24 Lee CLU S SORL1 SNP rs C 88%

3 TOMM40 19 TOMM40 APOE 3'5' 2kb TOMM40 44 TOMM40 APOE 45 3 ApoEε4 Roses Duyckaerts C Delatour B Potier MC. Classification and basic pathology of TOMM40 poly- T 19 ~ PLAU PLAU plasminogen activator urinary q bp11 10 mrna 2. 4 kb 5 Coon KD Myers AJ Craig DW et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for spo- Aβ PLAU upaaβ radic late-onset Alzheimer's disease J. J Clin Psychiatry PLAU 6 rs Bertram L Tanzi RE. Genome-wide association studies in Alzheimer's disease J. Hum Mol Genet R2 R C /T C /T 2 β P141L 7 Xuemin Xu. Garmma-secretase catalyzes sequential cleavages of the AβPP 48 upa transmembrane domain J. J Alzheimers Dis Tanzi RE Bertram L. Twenty years of the Alzheimer's disease amyloid hypothesisa genetic perspective J. Cell PLAU -25C /Trs G /Trs Rovelet-Lecrux AHannequin D Raux G et al. APP locus duplication 49 PLAU upa causes autosomal dominant early-onset Alzheimer disease with cerebral Aβ CALHM1CALHM1 10 Basun H Bogdanovic N Ingelsson M et al. Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzhei- 10q Ca 2 + Aβ Ute 50 mer disease J. Arch Neurol LO 11 Rossi G Giaccone G Maletta R et al. A family with Alzheimer disease LO CALHM1 and strokes associated with A713T mutation of the APP gene J. Neurology rs C /TP86L rs C /A H264N rs Giaccone G Morbin M Moda F et al. Neuropathology of the recessive CALHM1 A673V APP mutationalzheimer disease with distinctive features J. Ca 2 + Ca 2 + Aβ Acta Neuropathol CALHM1 P86L 13 Piscopo P Marcon G Piras MR et al. A novel PSEN2 mutation associated with a peculiar phenotype J. Neurology LO 51 ~ 55 Lambert Gómez-Tortosa E Barquero S Barón M et al. Clinical-genetic correlations in familial Alzheimer' s disease caused by presenilin 1 P86L mutations Koppel 57 P86L Alzheimer disease J. Acta Neuropathol Raux G Guyant-Maréchal L Martin C et al. Molecular diagnosis of autosomal dominant early onset Alzheimer' s diseasean update J. J Med rs LO TOMM40 rs LO Genet poly-trs LO 3 Bertram L. Alzheimer's disease genetics current status and future perspec- tives J. Int Rev Neurobiol Figgins JA Minster RL Demirci FY et al. Association studies of 22 candidate SNPs with late-onset Alzheimer's disease J. J Am J Med Genet B Neuropsychiatr Genet B amyloid angiopathy J. Nat Genet J. J Alzheimers Dis Aβ 15 Kumar-Singh S Theuns J Van Broeck B et al. Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40 J. Hum Mumt Lladó A Sánchez-Valle R Rey MJ et al. New mutation in the PSEN1 E120Ggene associated with early onset Alzheimer' s disease J. Neurologia J Bertram L Mc Queen MB Mullin K et al. Systematic meta-analyses of Alzheimer disease genetic association studiesthe AlzGene database

4 J. NatGenet Yu CE Seltman H Peskind ER et al. Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's diseasepatterns of linkage disequilibrium and disease / marker association J. Genomics Bu G. Apolipoprotein E and its receptors in Alzheimer' s diseasepathways pathogenesis and therapy J. Nat Rev Neurosci Kim J Basak JM Holtzman DM. The role of apolipoprotein E in Alzheimer's disease J. Neuron Bell RD Sagare AP Friedman AE et al. Transport pathways for clearance of human Alzheimer's amyloid beta-peptide and apolipoproteins E and J in the mouse central nervous system J. J Cereb Blood Flow Metab Harold D Abraham R Hollingworth P et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease and shows evidence for additional susceptibility genes J. Nat Genet Lambert JC Heath S Even G et al. Genome-wide association study i- dentifies variants at CLU and CR1 associated with Alzheimer' s disease J. Nat Genet Braskie MN Jahanshad N Stein JL et al. Common Alzheimer' s disease risk variant within the CLU gene affects white matter microstructure in young adults J. J Neurosci Hernandez FAvila J. Tauopathies J. Cell Mol Life Sci Castellani RJ Nunomura A Lee H et al. Phosphorylated tautoxic protective or none of the above J. J Alzheimers Dis Dermaut B Kumar-Singh S Rademakers R et al. Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum J. Trends Genet Evans W Fung HC Steele J et al. The tau H2 haplotype is almost exclusively Caucasian in origin J. Neurosci Lett Stefansson H Helgason A Thorleifsson G et al. Common inversion underselection in Europeans J. Nat Genet Almos PZ Horvath S Czibula A et al. H1 tau haplotype-related genomic variation at 17q21. 3 as an Asian heritage of the European Gypsy population J. Heredity Bullido MJ Aldudo J Frank A et al. Polymorphism in the tau gene associated with risk for Alzheimer's disease J. Neurosci Lett Myers AJ Kaleem M Marlowe L et al. The H1c haplotype at the MAPT locus is associated with Alzheimer's disease J. Hum Mol Genet Waring SC Rosenberg RN. Genome-wide association studies in Alzheimer disease J. Arch Neurol Wyss-Coray T Yan F Lin AH et al. Prominent neurodegeneration and increased plaque formation in complement inhibited Alzheimer' s mice J. Proc Natl Acad Sci Carrasquillo MM Belbin O Hunter TA et al. Replication of CLU CR1 and PICALM associations with Alzheimer disease J. Arch Neurol Brouwers N Van Cauwenberghe C Engelborghs S et al. Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b /C4b binding sites J. Molecular Psychiatry Rogaeva E Meng Y Lee JH et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease J. Nature Genet Klsch H Jessen F Wiltfang J et al. Influence of SORL1 gene variants association with CSF amyloid-beta products in probable Alzheimer's disease J. Neurosci Lett Tan EK Lee J Chen CP et al. SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese J. Neurobiol Aging Webster JA Myers AJ Pearson JV et al. SORL1 as an Alzheimer's disease predisposition gene J Neurodegener Dis Yonghong Li Charles Rowland Joseph Catanese et al. SORL1 variants and risk of late-onset Alzheimer' s disease J. Neurobiol Dis Lee JH Cheng R Schupf N et al. The association between genetic variants in SORL1 and Alzheimer disease in an urban multiethnic community-based cohort J. Arch Neurol Takei N Miyashita A Tsukie T et al. Genetic association study on in and around the APOE in late-onset Alzheimer' s disease in Japanese J. Genomics Yu CE Seltman H Peskind ER et al. Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's diseasepatterns of linkage disequilibrium and disease / marker association J. Genomics Roses MW LutzAmrine-Madsen H et al. A TOMM40 variablelength polymorphism predicts the age of late-onset Alzheimer' s disease J. Pharmacogenomics J Roses. An inherited variable poly-t repeat genotype in TOMM40 in Alzheimer disease J. Arch Neurol Ertekin-Taner N Ronald J Feuk L et al. Elevated amyloid beta protein Abeta42and late onset Alzhermer'disease are associated with single nucleotide polymorphsims in the urokinase-type plasminogen activator gene J. Hum Mol Genet PLAU J Ute Dreses-Werringloer Jean-Charles Lambert Vale' rie Vingtdeux et al. A polymorphism in CALHM1 influences Ca 2 + homeostasis Aβ levels and Alzheimer's disease risk J. Cell Bertram L Schjeide BM Hooli B et al. No association between CAL- HM1 and Alzheimer's disease risk J. Cell Minster RL Demirci FY DeKosky ST et al. No association between CALHM1 variation and risk of Alzheimer disease J. Hum Mutat E Sleegers K Brouwers N Bettens K et al. No association between CAL- HM1 and risk for Alzheimer dementia in a Belgian population J. Hum Mutat E Beecham GW Schnetz-Boutaud N Haines JL et al. CALHM1 polymorphism is not associated with late-onset Alzheimer disease J. Ann Hum Genet Pt

5 Nacmias B Tedde A Bagnoli S et al. Lack of implication for CALHM1 P86L common variation in Italian patients with early and late onset Alzheimer's disease J. J Alzheimers Dis Lambert JC Sleegers K Gonzalez-Perez A et al. The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer' s diseasea meta-analysis study J. J Alzheimers Dis Koppel J Campagne F Vingtdeux V et al. CALHM1 P86L polymorphism modulates CSF Aβ levels in cognitively healthy individuals at risk for Alzheimer's disease J. Mol Med R A doi /j. issn / ~ 69 30% 13% 80 50% / 31% 28% ~ 35% 30% ~ 50% ~ No. 11DZ

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