SORL1 c.1212-1864T>G

Variant ID: 11-121389502-T-G

NM_003105.5(SORL1):c.1212-1864T>G

This variant was identified in 9 publications

View GRCh38 version.




Publications:


SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.

Plos One
Miyashita, Akinori A; Koike, Asako A; Jun, Gyungah G; Wang, Li-San LS; Takahashi, Satoshi S; Matsubara, Etsuro E; Kawarabayashi, Takeshi T; Shoji, Mikio M; Tomita, Naoki N; Arai, Hiroyuki H; Asada, Takashi T; Harigaya, Yasuo Y; Ikeda, Masaki M; Amari, Masakuni M; Hanyu, Haruo H; Higuchi, Susumu S; Ikeuchi, Takeshi T; Nishizawa, Masatoyo M; Suga, Masaichi M; Kawase, Yasuhiro Y; Akatsu, Hiroyasu H; Kosaka, Kenji K; Yamamoto, Takayuki T; Imagawa, Masaki M; Hamaguchi, Tsuyoshi T; Yamada, Masahito M; Morihara, Takashi T; Moriaha, Takashi T; Takeda, Masatoshi M; Takao, Takeo T; Nakata, Kenji K; Fujisawa, Yoshikatsu Y; Sasaki, Ken K; Watanabe, Ken K; Nakashima, Kenji K; Urakami, Katsuya K; Ooya, Terumi T; Takahashi, Mitsuo M; Yuzuriha, Takefumi T; Serikawa, Kayoko K; Yoshimoto, Seishi S; Nakagawa, Ryuji R; Kim, Jong-Won JW; Ki, Chang-Seok CS; Won, Hong-Hee HH; Na, Duk L DL; Seo, Sang Won SW; Mook-Jung, Inhee I; , ; St George-Hyslop, Peter P; Mayeux, Richard R; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Yoshida, Makiko M; Nishida, Nao N; Tokunaga, Katsushi K; Yamamoto, Ken K; Tsuji, Shoji S; Kanazawa, Ichiro I; Ihara, Yasuo Y; Schellenberg, Gerard D GD; Farrer, Lindsay A LA; Kuwano, Ryozo R
Publication Date: 2013

Variant appearance in text: rs4935775
PubMed Link: 23565137
Variant Present in the following documents:
  • Main text
  • pone.0058618.pdf
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Neuroimaging measures as endophenotypes in Alzheimer's disease.

International Journal Of Alzheimer'S Disease
Braskie, Meredith N MN; Ringman, John M JM; Thompson, Paul M PM
Publication Date: 2011-03-31

Variant appearance in text: rs4935775
PubMed Link: 21547229
Variant Present in the following documents:
  • Main text
  • IJAD2011-490140.pdf
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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: rs4935775
PubMed Link: 21220680
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs4935775
PubMed Link: 21185108
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs4935775
PubMed Link: 19064752
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs4935775
PubMed Link: 18090307
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs4935775
PubMed Link: 17949987
Variant Present in the following documents:
  • Main text
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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: rs4935775
PubMed Link: 17420311
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs4935775
PubMed Link: 17220890
Variant Present in the following documents:
  • Main text
View BVdb publication page