SORL1 Gene is Associated with the Conversion from Mild Cognitive Impairment to Alzheimer's Disease

被引：13

作者：

Piscopo, Paola ^{[1
]}

Tosto, Giuseppe ^{[2
]}

Belli, Chiara ^{[1
]}

Talarico, Giuseppina ^{[2
]}

Galimberti, Daniela ^{[3
]}

Gasparini, Marina ^{[2
]}

Canevelli, Marco ^{[2
]}

Poleggi, Anna ^{[1
]}

Crestini, Alessio ^{[1
]}

Albani, Diego ^{[4
]}

Forloni, Gianluigi ^{[4
]}

Lucca, Ugo ^{[4
]}

Quadri, Pierluigi ^{[6
]}

Tettamanti, Mauro ^{[4
]}

Fenoglio, Chiara ^{[3
]}

Scarpini, Elio ^{[3
]}

Bruno, Giuseppe ^{[2
]}

Vanacore, Nicola ^{[5
]}

Confaloni, Annamaria ^{[1
]}

机构：

[1] Ist Super Sanita, Dept Cell Biol & Neurosci, I-00161 Rome, Italy

[2] Univ Roma La Sapienza, Memory Clin, Dept Neurol & Psychiat, Rome, Italy

[3] Univ Milan, Dino Ferrari Ctr, IRCCS Osped Maggiore Policlin, Dept Pathophysiol & Transplantat,Fdn Ca Granda, Milan, Italy

[4] IRCCS Ist Ric Farmacol Mario Negri, Milan, Italy

[5] Ist Super Sanita, Dept Natl Ctr Epidemiol Surveillance & Hlth Promo, I-00161 Rome, Italy

[6] Osped Regionali Lugano & Mendrisio, Div Geriatr, Lugano, Switzerland

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2015年 / 46卷 / 03期

关键词：

Alzheimer's disease; mild cognitive impairment; single nucleotide polymorphisms; SORL1; AMYLOID PRECURSOR PROTEIN; LR11/SORLA EXPRESSION; RECEPTOR LR11; METAANALYSIS; TRAFFICKING; VARIANTS; TESTS; RISK;

D O I：

10.3233/JAD-141551

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Several studies have established the sortilin-related receptor gene (SORL1) as a susceptibility locus for Alzheimer's disease (AD). Single nucleotide polymorphisms of SORL1 reported in literature as being associated with AD were investigated in an Italian case-control data set, and their role as a risk factor of conversion to AD was studied in an independent sample of subjects diagnosed with mild cognitive impairment (MCI) at baseline. rs641120, rs2070045, and rs1010159 were genotyped in 734 subjects diagnosed with AD (n = 338) and MCI (n = 181) and in healthy controls (n = 215). Our results confirmed the association between rs641120 and AD(p = 0.01). In the MCI cohort, rs1010159 was associated with conversion to AD(HR = 1.56, p = 0.002). Taken together, these findings confirm that SORL1 is associated with AD and might be a potential tool for identifying MCI subjects at high risk of conversion to AD.

引用

页码：771 / 776

页数：6

共 28 条

[1] Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA/LR11 [J].

Andersen, OM ;

Schmidt, V ;

Spoelgen, R ;

Gliemann, J ;

Behlke, J ;

Galatis, D ;

McKinstry, WJ ;

Parker, MW ;

Masters, CL ;

Hyman, BT ;

Cappai, R ;

Willnow, TE .

BIOCHEMISTRY, 2006, 45 (08) :2618-2628

[2] Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[3] Controlling the false discovery rate in behavior genetics research [J].

Benjamini, Y ;

Drai, D ;

Elmer, G ;

Kafkafi, N ;

Golani, I .

BEHAVIOURAL BRAIN RESEARCH, 2001, 125 (1-2) :279-284

[4] Rey-Osterrieth complex figure: normative values in an Italian population sample [J].

Caffarra, P ;

Vezzadini, G ;

Dieci, F ;

Zonato, F ;

Venneri, A .

NEUROLOGICAL SCIENCES, 2002, 22 (06) :443-447

[5] VALIDITY OF SOME NEUROPSYCHOLOGICAL TESTS IN THE ASSESSMENT OF MENTAL DETERIORATION [J].

CALTAGIRONE, C ;

GAINOTTI, G ;

MASULLO, C ;

MICELI, G .

ACTA PSYCHIATRICA SCANDINAVICA, 1979, 60 (01) :50-56

[6] LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease [J].

Dodson, Sara E. ;

Gearing, Marla ;

Lippa, Carol F. ;

Montine, Thomas J. ;

Levey, Allan I. ;

Lah, James J. .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2006, 65 (09) :866-872

[7] The SORL1 gene and convergent neural risk for Alzheimer's disease across the human lifespan [J].

Felsky, D. ;

Szeszko, P. ;

Yu, L. ;

Honer, W. G. ;

De Jager, P. L. ;

Schneider, J. A. ;

Malhotra, A. K. ;

Lencz, T. ;

Ikuta, T. ;

Pipitone, J. ;

Chakravarty, M. M. ;

Lobaugh, N. J. ;

Mulsant, B. H. ;

Pollock, B. G. ;

Kennedy, J. L. ;

Bennett, D. A. ;

Voineskos, A. N. .

MOLECULAR PSYCHIATRY, 2014, 19 (10) :1125-1132

[8] MINI-MENTAL STATE - PRACTICAL METHOD FOR GRADING COGNITIVE STATE OF PATIENTS FOR CLINICIAN [J].

FOLSTEIN, MF ;

FOLSTEIN, SE ;

MCHUGH, PR .

JOURNAL OF PSYCHIATRIC RESEARCH, 1975, 12 (03) :189-198

[9] An Updated Meta-Analysis of the Association between SORL1 Variants and the Risk for Sporadic Alzheimer's Disease [J].

Jin, Chunhui ;

Liu, Xiaowei ;

Zhang, Fuquan ;

Wu, Yue ;

Yuan, Jianmin ;

Zhu, Jianzhong ;

Zhang, Feng ;

Wang, Guoqiang ;

Cheng, Zaohuo .

JOURNAL OF ALZHEIMERS DISEASE, 2013, 37 (02) :429-437

[10] Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease [J].

Lambert, Jean-Charles ;

Ibrahim-Verbaas, Carla A. ;

Harold, Denise ;

Naj, Adam C. ;

Sims, Rebecca ;

Bellenguez, Celine ;

Jun, Gyungah ;

DeStefano, Anita L. ;

Bis, Joshua C. ;

Beecham, Gary W. ;

Grenier-Boley, Benjamin ;

Russo, Giancarlo ;

Thornton-Wells, Tricia A. ;

Jones, Nicola ;

Smith, Albert V. ;

Chouraki, Vincent ;

Thomas, Charlene ;

Ikram, M. Arfan ;

Zelenika, Diana ;

Vardarajan, Badri N. ;

Kamatani, Yoichiro ;

Lin, Chiao-Feng ;

Gerrish, Amy ;

Schmidt, Helena ;

Kunkle, Brian ;

Dunstan, Melanie L. ;

Ruiz, Agustin ;

Bihoreau, Marie-Therese ;

Choi, Seung-Hoan ;

Reitz, Christiane ;

Pasquier, Florence ;

Hollingworth, Paul ;

Ramirez, Alfredo ;

Hanon, Olivier ;

Fitzpatrick, Annette L. ;

Buxbaum, Joseph D. ;

Campion, Dominique ;

Crane, Paul K. ;

Baldwin, Clinton ;

Becker, Tim ;

Gudnason, Vilmundur ;

Cruchaga, Carlos ;

Craig, David ;

Amin, Najaf ;

Berr, Claudine ;

Lopez, Oscar L. ;

De Jager, Philip L. ;

Deramecourt, Vincent ;

Johnston, Janet A. ;

Evans, Denis .

NATURE GENETICS, 2013, 45 (12) :1452-U206

← 1 2 3 →