SORL1 c.285+5629T>C

Variant ID: 11-121328954-T-C

NM_003105.5(SORL1):c.285+5629T>C

This variant was identified in 21 publications

View GRCh38 version.




Publications:


SORL1 Polymorphisms in Mexican Patients with Alzheimer's Disease.

Genes
Toral-Rios, Danira D; Ruiz-Sánchez, Elizabeth E; Rodríguez, Nancy Lucero Martínez NLM; Maury-Rosillo, Marlene M; Rosas-Carrasco, Óscar Ó; Becerril-Pérez, Fernando F; Mena-Barranco, Francisco F; Carvajal-García, Rosa R; Silva-Adaya, Daniela D; Delgado-Namorado, Yair Y; Ramos-Palacios, Gerardo G; Sánchez-Torres, Carmen C; Campos-Peña, Victoria V
Publication Date: 2022-03-25

Variant appearance in text: rs661057
PubMed Link: 35456392
Variant Present in the following documents:
  • Main text
  • genes-13-00587.pdf
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Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+).

Neurology. Genetics
Mäkelä, Mira M; Kaivola, Karri K; Valori, Miko M; Paetau, Anders A; Polvikoski, Tuomo T; Singleton, Andrew B AB; Traynor, Bryan J BJ; Stone, David J DJ; Peuralinna, Terhi T; Tienari, Pentti J PJ; Tanskanen, Maarit M; Myllykangas, Liisa L
Publication Date: 2018-02

Variant appearance in text: rs661057
PubMed Link: 29379882
Variant Present in the following documents:
  • NG2017005637.pdf
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Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population.

Oncotarget
Lin, Eugene E; Tsai, Shih-Jen SJ; Kuo, Po-Hsiu PH; Liu, Yu-Li YL; Yang, Albert C AC; Kao, Chung-Feng CF
Publication Date: 2017-04-11

Variant appearance in text: rs661057
PubMed Link: 28199971
Variant Present in the following documents:
  • Main text
  • oncotarget-08-24077.pdf
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Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease.

Acta Neuropathologica
Andersen, Olav M OM; Rudolph, Ina-Maria IM; Willnow, Thomas E TE
Publication Date: 2016-11

Variant appearance in text: rs661057
PubMed Link: 27638701
Variant Present in the following documents:
  • Main text
  • 401_2016_Article_1615.pdf
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Vascular endothelial growth factor gene promoter polymorphisms and Alzheimer's disease risk: a meta-analysis.

Cns Neuroscience & Therapeutics
Liu, Sheng-Yuan SY; Zeng, Fang-Fang FF; Chen, Zhong-Wei ZW; Wang, Chang-Yi CY; Zhao, Bin B; Li, Ke-Shen KS
Publication Date: 2013-07

Variant appearance in text: rs661057
PubMed Link: 23575378
Variant Present in the following documents:
  • Main text
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Polymorphism -116C/G of human X-box-binding protein 1 promoter is associated with risk of Alzheimer's disease.

Cns Neuroscience & Therapeutics
Liu, Sheng-Yuan SY; Wang, Wei W; Cai, Zhi-You ZY; Yao, Li-Fen LF; Chen, Zhong-Wei ZW; Wang, Chang-Yi CY; Zhao, Bin B; Li, Ke-Shen KS
Publication Date: 2013-04

Variant appearance in text: rs661057
PubMed Link: 23421912
Variant Present in the following documents:
  • Main text
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Sortilin receptor 1 predicts longitudinal cognitive change.

Neurobiology Of Aging
Reynolds, Chandra A CA; Zavala, Catalina C; Gatz, Margaret M; Vie, Loryana L; Johansson, Boo B; Malmberg, Bo B; Ingelsson, Erik E; Prince, Jonathan A JA; Pedersen, Nancy L NL
Publication Date: 2013-06

Variant appearance in text: rs661057
PubMed Link: 23318115
Variant Present in the following documents:
  • Main text
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Impact of SORL1 single nucleotide polymorphisms on Alzheimer's disease cerebrospinal fluid markers.

Dementia And Geriatric Cognitive Disorders
Alexopoulos, Panagiotis P; Guo, Liang-Hao LH; Kratzer, Martina M; Westerteicher, Christine C; Kurz, Alexander A; Perneczky, Robert R
Publication Date: 2011

Variant appearance in text: rs661057
PubMed Link: 21997402
Variant Present in the following documents:
  • Main text
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Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis.

International Journal Of Molecular Epidemiology And Genetics
Webster, Jennifer J; Reiman, Eric M EM; Zismann, Victoria L VL; Joshipura, Keta D KD; Pearson, John V JV; Hu-Lince, Diane D; Huentelman, Matthew J MJ; Craig, David W DW; Coon, Keith D KD; Beach, Thomas T; Rohrer, Kristen C KC; Zhao, Alice S AS; Leung, Doris D; Bryden, Leslie L; Marlowe, Lauren L; Kaleem, Mona M; Mastroeni, Diego D; Grover, Andrew A; Rogers, Joseph J; Heun, Reinhard R; Jessen, Frank F; Kölsch, Heike H; Heward, Christopher B CB; Ravid, Rivka R; Hutton, Michael L ML; Melquist, Stacey S; Petersen, Ron C RC; Caselli, Richard J RJ; Papassotiropoulos, Andreas A; Stephan, Dietrich A DA; Hardy, John J; Myers, Amanda A
Publication Date: 2010

Variant appearance in text: rs661057
PubMed Link: 21537449
Variant Present in the following documents:
  • Main text
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Meta-analysis of the association between variants in SORL1 and Alzheimer disease.

Archives Of Neurology
Reitz, Christiane C; Cheng, Rong R; Rogaeva, Ekaterina E; Lee, Joseph H JH; Tokuhiro, Shinya S; Zou, Fanggeng F; Bettens, Karolien K; Sleegers, Kristel K; Tan, Eng King EK; Kimura, Ryo R; Shibata, Nobuto N; Arai, Heii H; Kamboh, M Ilyas MI; Prince, Jonathan A JA; Maier, Wolfgang W; Riemenschneider, Matthias M; Owen, Michael M; Harold, Denise D; Hollingworth, Paul P; Cellini, Elena E; Sorbi, Sandro S; Nacmias, Benedetta B; Takeda, Masatoshi M; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL; Younkin, Steven S; Williams, Julie J; van Broeckhoven, Christine C; Farrer, Lindsay A LA; St George-Hyslop, Peter H PH; Mayeux, Richard R; ,
Publication Date: 2011-01

Variant appearance in text: rs661057
PubMed Link: 21220680
Variant Present in the following documents:
  • Main text
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The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression.

Neurobiology Of Aging
McCarthy, Jeanette J JJ; Saith, Sunita S; Linnertz, Colton C; Burke, James R JR; Hulette, Christine M CM; Welsh-Bohmer, Kathleen A KA; Chiba-Falek, Ornit O
Publication Date: 2012-07

Variant appearance in text: rs661057
PubMed Link: 21185108
Variant Present in the following documents:
  • Main text
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Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels.

Journal Of Alzheimer'S Disease : Jad
Kauwe, John S K JS; Cruchaga, Carlos C; Bertelsen, Sarah S; Mayo, Kevin K; Latu, Wayne W; Nowotny, Petra P; Hinrichs, Anthony L AL; Fagan, Anne M AM; Holtzman, David M DM; , ; Goate, Alison M AM
Publication Date: 2010

Variant appearance in text: rs661057
PubMed Link: 20634593
Variant Present in the following documents:
  • Main text
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Expression of SORL1 and a novel SORL1 splice variant in normal and Alzheimers disease brain.

Molecular Neurodegeneration
Grear, Karrie E KE; Ling, I-Fang IF; Simpson, James F JF; Furman, Jennifer L JL; Simmons, Christopher R CR; Peterson, Shawn L SL; Schmitt, Frederick A FA; Markesbery, William R WR; Liu, Qiang Q; Crook, Julia E JE; Younkin, Steven G SG; Bu, Guojun G; Estus, Steven S
Publication Date: 2009-11-04

Variant appearance in text: rs661057
PubMed Link: 19889229
Variant Present in the following documents:
  • Main text
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Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease.

Archives Of Neurology
T Cuenco, Karen K; Lunetta, Kathryn L KL; Baldwin, Clinton T CT; McKee, Ann C AC; Guo, Jianping J; Cupples, L Adrienne LA; Green, Robert C RC; St George-Hyslop, Peter H PH; Chui, Helena H; DeCarli, Charles C; Farrer, Lindsay A LA; ,
Publication Date: 2008-12

Variant appearance in text: rs661057
PubMed Link: 19064752
Variant Present in the following documents:
  • Main text
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Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease.

American Journal Of Epidemiology
Kavvoura, Fotini K FK; McQueen, Matthew B MB; Khoury, Muin J MJ; Tanzi, Rudolph E RE; Bertram, Lars L; Ioannidis, John P A JP
Publication Date: 2008-10-15

Variant appearance in text: rs661057
PubMed Link: 18779388
Variant Present in the following documents:
  • Main text
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No association of SORL1 SNPs with Alzheimer's disease.

Neuroscience Letters
Minster, Ryan L RL; DeKosky, Steven T ST; Kamboh, M Ilyas MI
Publication Date: 2008-08-01

Variant appearance in text: SORL1: 285+5629T>C; rs661057
PubMed Link: 18562096
Variant Present in the following documents:
  • Main text
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Association between SORL1 and Alzheimer's disease in a genome-wide study.

Neuroreport
Meng, Yan Y; Lee, Joseph H JH; Cheng, Rong R; St George-Hyslop, Peter P; Mayeux, Richard R; Farrer, Lindsay A LA
Publication Date: 2007-11-19

Variant appearance in text: rs661057
PubMed Link: 18090307
Variant Present in the following documents:
  • Main text
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SORL1 variants and risk of late-onset Alzheimer's disease.

Neurobiology Of Disease
Li, Yonghong Y; Rowland, Charles C; Catanese, Joseph J; Morris, John J; Lovestone, Simon S; O'Donovan, Michael C MC; Goate, Alison A; Owen, Michael M; Williams, Julie J; Grupe, Andrew A
Publication Date: 2008-02

Variant appearance in text: rs661057
PubMed Link: 17949987
Variant Present in the following documents:
  • Main text
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The diploid genome sequence of an individual human.

Plos Biology
Levy, Samuel S; Sutton, Granger G; Ng, Pauline C PC; Feuk, Lars L; Halpern, Aaron L AL; Walenz, Brian P BP; Axelrod, Nelson N; Huang, Jiaqi J; Kirkness, Ewen F EF; Denisov, Gennady G; Lin, Yuan Y; MacDonald, Jeffrey R JR; Pang, Andy Wing Chun AW; Shago, Mary M; Stockwell, Timothy B TB; Tsiamouri, Alexia A; Bafna, Vineet V; Bansal, Vikas V; Kravitz, Saul A SA; Busam, Dana A DA; Beeson, Karen Y KY; McIntosh, Tina C TC; Remington, Karin A KA; Abril, Josep F JF; Gill, John J; Borman, Jon J; Rogers, Yu-Hui YH; Frazier, Marvin E ME; Scherer, Stephen W SW; Strausberg, Robert L RL; Venter, J Craig JC
Publication Date: 2007-09-04

Variant appearance in text: rs661057
PubMed Link: 17803354
Variant Present in the following documents:
  • pbio.0050254.pdf
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The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort.

Archives Of Neurology
Lee, Joseph H JH; Cheng, Rong R; Schupf, Nicole N; Manly, Jennifer J; Lantigua, Rafael R; Stern, Yaakov Y; Rogaeva, Ekaterina E; Wakutani, Yosuke Y; Farrer, Lindsay L; St George-Hyslop, Peter P; Mayeux, Richard R
Publication Date: 2007-04

Variant appearance in text: rs661057
PubMed Link: 17420311
Variant Present in the following documents:
  • Main text
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The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.

Nature Genetics
Rogaeva, Ekaterina E; Meng, Yan Y; Lee, Joseph H JH; Gu, Yongjun Y; Kawarai, Toshitaka T; Zou, Fanggeng F; Katayama, Taiichi T; Baldwin, Clinton T CT; Cheng, Rong R; Hasegawa, Hiroshi H; Chen, Fusheng F; Shibata, Nobuto N; Lunetta, Kathryn L KL; Pardossi-Piquard, Raphaelle R; Bohm, Christopher C; Wakutani, Yosuke Y; Cupples, L Adrienne LA; Cuenco, Karen T KT; Green, Robert C RC; Pinessi, Lorenzo L; Rainero, Innocenzo I; Sorbi, Sandro S; Bruni, Amalia A; Duara, Ranjan R; Friedland, Robert P RP; Inzelberg, Rivka R; Hampe, Wolfgang W; Bujo, Hideaki H; Song, You-Qiang YQ; Andersen, Olav M OM; Willnow, Thomas E TE; Graff-Radford, Neill N; Petersen, Ronald C RC; Dickson, Dennis D; Der, Sandy D SD; Fraser, Paul E PE; Schmitt-Ulms, Gerold G; Younkin, Steven S; Mayeux, Richard R; Farrer, Lindsay A LA; St George-Hyslop, Peter P
Publication Date: 2007-02

Variant appearance in text: rs661057
PubMed Link: 17220890
Variant Present in the following documents:
  • Main text
View BVdb publication page