Variant ID: 19-45411110-T-C

NM_000041.2(APOE):c.137T>C;(p.L46P)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.

International Journal Of Molecular Sciences
Abou Khalil, Yara Y; Marmontel, Oriane O; Ferrières, Jean J; Paillard, François F; Yelnik, Cécile C; Carreau, Valérie V; Charrière, Sybil S; Bruckert, Eric E; Gallo, Antonio A; Giral, Philippe P; Philippi, Anne A; Bluteau, Olivier O; Boileau, Catherine C; Abifadel, Marianne M; Di-Filippo, Mathilde M; Carrié, Alain A; Rabès, Jean-Pierre JP; Varret, Mathilde M
Publication Date: 2022-05-21

Variant appearance in text: APOE: 137T>C; Leu46Pro; rs769452
PubMed Link: 35628605
Variant Present in the following documents:
  • Main text
  • ijms-23-05792.pdf
View BVdb publication page



Immune Response and Lipid Metabolism Gene Polymorphisms Are Associated with the Risk of Obesity in Middle-Aged and Elderly Patients.

Journal Of Personalized Medicine
Ponasenko, Anastasia A; Sinitsky, Maxim M; Minina, Varvara V; Vesnina, Anna A; Khutornaya, Maria M; Prosekov, Alexander A; Barbarash, Olga O
Publication Date: 2022-02-08

Variant appearance in text: rs769452
PubMed Link: 35207726
Variant Present in the following documents:
  • jpm-12-00238.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: APOE: L46P
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02-03

Variant appearance in text: APOE: L46P; rs769452
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx
View BVdb publication page



FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.

Scientific Reports
Fath, Felix F; Bengeser, Andreas A; Barresi, Mathias M; Binner, Priska P; Schwab, Stefanie S; Ray, Kausik K KK; Krämer, Bernhard K BK; Fraass, Uwe U; März, Winfried W
Publication Date: 2021-10-14

Variant appearance in text: APOE: 137T>C; Leu46Pro
PubMed Link: 34650182
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_99961.pdf
View BVdb publication page



Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Torres, Guillermo G GG; Nygaard, Marianne M; Caliebe, Amke A; Blanché, Hélène H; Chantalat, Sophie S; Galan, Pilar P; Lieb, Wolfgang W; Christiansen, Lene L; Deleuze, Jean-François JF; Christensen, Kaare K; Strauch, Konstantin K; Müller-Nurasyid, Martina M; Peters, Annette A; Nöthen, Markus M MM; Hoffmann, Per P; Flachsbart, Friederike F; Schreiber, Stefan S; Ellinghaus, David D; Franke, Andre A; Dose, Janina J; Nebel, Almut A
Publication Date: 2021-04-30

Variant appearance in text: rs769452
PubMed Link: 33491046
Variant Present in the following documents:
  • Main text
  • glab023.pdf
View BVdb publication page



APOE and dementia - resequencing and genotyping in 105,597 individuals.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Rasmussen, Katrine L KL; Tybjaerg-Hansen, Anne A; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R
Publication Date: 2020-12

Variant appearance in text: APOE: 137T>C; Leu46Pro; rs769452
PubMed Link: 32808727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: APOE: L46P; rs769452
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Journal Of The Endocrine Society
Ittisoponpisan, Sirawit S; David, Alessia A
Publication Date: 2018-08-01

Variant appearance in text: APOE: Leu46Pro; rs769452
PubMed Link: 30019023
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Neurobiology Of Disease
Geiger, Joshua T JT; Ding, Jinhui J; Crain, Barbara B; Pletnikova, Olga O; Letson, Christopher C; Dawson, Ted M TM; Rosenthal, Liana S LS; Pantelyat, Alexander A; Gibbs, J Raphael JR; Albert, Marilyn S MS; Hernandez, Dena G DG; Hillis, Argye E AE; Stone, David J DJ; Singleton, Andrew B AB; , ; Hardy, John A JA; Troncoso, Juan C JC; Scholz, Sonja W SW
Publication Date: 2016-10

Variant appearance in text: APOE: L46P
PubMed Link: 27312774
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: APOE: Leu46Pro; rs769452
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive evaluation of the association of APOE genetic variation with plasma lipoprotein traits in U.S. whites and African blacks.

Plos One
Radwan, Zaheda H ZH; Wang, Xingbin X; Waqar, Fahad F; Pirim, Dilek D; Niemsiri, Vipavee V; Hokanson, John E JE; Hamman, Richard F RF; Bunker, Clareann H CH; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Publication Date: 2014

Variant appearance in text: APOE: Leu46Pro; rs769452
PubMed Link: 25502880
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of rare variants in Alzheimer's disease.

Frontiers In Genetics
Lord, Jenny J; Lu, Alexander J AJ; Cruchaga, Carlos C
Publication Date: 2014

Variant appearance in text: rs769452
PubMed Link: 25389433
Variant Present in the following documents:
  • Main text
View BVdb publication page



ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease.

Molecular Neurodegeneration
Medway, Christopher W CW; Abdul-Hay, Samer S; Mims, Tynickwa T; Ma, Li L; Bisceglio, Gina G; Zou, Fanggeng F; Pankratz, Shane S; Sando, Sigrid B SB; Aasly, Jan O JO; Barcikowska, Maria M; Siuda, Joanna J; Wszolek, Zbigniew K ZK; Ross, Owen A OA; Carrasquillo, Minerva M; Dickson, Dennis W DW; Graff-Radford, Neill N; Petersen, Ronald C RC; Ertekin-Taner, Nilüfer N; Morgan, Kevin K; Bu, Guojun G; Younkin, Steven G SG
Publication Date: 2014-03-10

Variant appearance in text: rs769452
PubMed Link: 24607147
Variant Present in the following documents:
  • Main text
View BVdb publication page



The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Plos Genetics
Benitez, Bruno A BA; Karch, Celeste M CM; Cai, Yefei Y; Jin, Sheng Chih SC; Cooper, Breanna B; Carrell, David D; Bertelsen, Sarah S; Chibnik, Lori L; Schneider, Julie A JA; Bennett, David A DA; , ; , ; Fagan, Anne M AM; Holtzman, David D; Morris, John C JC; Goate, Alison M AM; Cruchaga, Carlos C
Publication Date: 2013

Variant appearance in text: APOE: L46P; rs769452
PubMed Link: 23990795
Variant Present in the following documents:
  • Main text
View BVdb publication page



Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.

Neurology Research International
Masoodi, Tariq Ahmad TA; Al Shammari, Sulaiman A SA; Al-Muammar, May N MN; Alhamdan, Adel A AA
Publication Date: 2012

Variant appearance in text: APOE: L46P; rs769452
PubMed Link: 22530123
Variant Present in the following documents:
  • Main text
View BVdb publication page



Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

Bmc Medical Genetics
Kaushal, Ritesh R; Woo, Daniel D; Pal, Prodipto P; Haverbusch, Mary M; Xi, Huifeng H; Moomaw, Charles C; Sekar, Padmini P; Kissela, Brett B; Kleindorfer, Dawn D; Flaherty, Matthew M; Sauerbeck, Laura L; Chakraborty, Ranajit R; Broderick, Joseph J; Deka, Ranjan R
Publication Date: 2007-07-31

Variant appearance in text: rs769452
PubMed Link: 17672902
Variant Present in the following documents:
  • Main text
View BVdb publication page