Publications:

---

Apolipoprotein E (APOE) Haplotypes in Healthy Subjects from Worldwide Macroareas: A Population Genetics Perspective for Cardiovascular Disease, Neurodegeneration, and Dementia.

Current Issues In Molecular Biology

Abondio, Paolo P; Bruno, Francesco F; Luiselli, Donata D

Publication Date: 2023-03-31

Variant appearance in text: rs769452

PubMed Link: 37185708

Variant Present in the following documents:

• Main text
• cimb-45-00184.pdf

View BVdb publication page

---

Orthogonal analysis of variants in APOE gene using in-silico approaches reveals novel disrupting variants.

Frontiers In Bioinformatics

Li, Chang C; Hou, Ian I; Ma, Mingjia M; Wang, Grace G; Bai, Yongsheng Y; Liu, Xiaoming X

Publication Date: 2023

Variant appearance in text: APOE: L46P

PubMed Link: 37091907

Variant Present in the following documents:

• Main text
• fbinf-03-1122559.pdf

View BVdb publication page

---

Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

International Journal Of Molecular Sciences

Pan-Lizcano, Ricardo R; Mariñas-Pardo, Luis L; Núñez, Lucía L; Rebollal-Leal, Fernando F; López-Vázquez, Domingo D; Pereira, Ana A; Molina-Nieto, Aranzazu A; Calviño, Ramón R; Vázquez-Rodríguez, Jose Manuel JM; Hermida-Prieto, Manuel M

Publication Date: 2022-12-17

Variant appearance in text: APOE: 137T>C; L46P; rs769452

PubMed Link: 36555767

Variant Present in the following documents:

• ijms-23-16127.pdf

View BVdb publication page

---

Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Frontiers In Immunology

Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH

Publication Date: 2022

Variant appearance in text: APOE: L46P

PubMed Link: 36268024

Variant Present in the following documents:

• Table_1.xlsx, sheet 3

View BVdb publication page

---

Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine

Abifadel, Marianne M; Boileau, Catherine C

Publication Date: 2022-10-04

Variant appearance in text: APOE: Leu46Pro

PubMed Link: 36196022

Variant Present in the following documents:

• Main text
• JOIM-293-144.pdf

View BVdb publication page

---

Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: APOE: L46P

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s1.xlsx, sheet 1
• noac171_suppl_suplementary_table_s7.xlsx, sheet 1
• noac171_suppl_suplementary_table_ss9.xls, sheet 1

View BVdb publication page

---

Genetics of Alzheimer's disease: an East Asian perspective.

Journal Of Human Genetics

Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T

Publication Date: 2022-06-01

Variant appearance in text: APOE: 137T>C; Leu46Pro; rs769452

PubMed Link: 35641666

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1050.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, sheet 1

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

Variant appearance in text: APOE: L46P; rs769452

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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

---

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: APOE: L46P

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: APOE: 137T>C; Leu46Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 3

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
• ALZ-16-1624.pdf

View BVdb publication page

---

In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: rs769452

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

---

Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: APOE: L46P

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer's Disease Risk in a Multiracial Sample.

Journal Of Clinical Medicine

Choi, Kyu Yeong KY; Lee, Jang Jae JJ; Gunasekaran, Tamil Iniyan TI; Kang, Sarang S; Lee, Wooje W; Jeong, Jangho J; Lim, Ho Jae HJ; Zhang, Xiaoling X; Zhu, Congcong C; Won, So-Yoon SY; Choi, Yu Yong YY; Seo, Eun Hyun EH; Lee, Seok Cheol SC; Gim, Jungsoo J; Chung, Ji Yeon JY; Chong, Ari A; Byun, Min Soo MS; Seo, Sujin S; Ko, Pan-Woo PW; Han, Ji-Won JW; McLean, Catriona C; Farrell, John J; Lunetta, Kathryn L KL; Miyashita, Akinori A; Hara, Norikazu N; Won, Sungho S; Choi, Seong-Min SM; Ha, Jung-Min JM; Jeong, Jee Hyang JH; Kuwano, Ryozo R; Song, Min Kyung MK; An, Seong Soo A SSA; Lee, Young Min YM; Park, Kyung Won KW; Lee, Ho-Won HW; Choi, Seong Hye SH; Rhee, Sangmyung S; Song, Woo Keun WK; Lee, Jung Sup JS; Mayeux, Richard R; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Choo, I L Han ILH; Nho, Kwangsik K; Kim, Ki-Woong KW; Lee, Dong Young DY; Kim, SangYun S; Kim, Byeong C BC; Kim, Hoowon H; Jun, Gyungah R GR; Schellenberg, Gerard D GD; Ikeuchi, Takeshi T; Farrer, Lindsay A LA; Lee, Kun Ho KH; Neuroimaging Initative, Alzheimer's Disease AD

Publication Date: 2019-08-16

Variant appearance in text: rs769452

PubMed Link: 31426376

Variant Present in the following documents:

• jcm-08-01236-s001.pdf

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: APOE: L46P; rs769452

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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
• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 3

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
• js.2018-00077.pdf

View BVdb publication page

---

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Journal Of Neurology, Neurosurgery, And Psychiatry

Keogh, Michael J MJ; Wei, Wei W; Aryaman, Juvid J; Wilson, Ian I; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Jones, Nick N; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2018-08

Variant appearance in text: APOE: L46P

PubMed Link: 29332010

Variant Present in the following documents:

• jnnp-2017-317234supp001.pdf

View BVdb publication page

---

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: rs769452

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 4

View BVdb publication page

---

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: APOE: 137T>C; Leu46Pro

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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

---

Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: APOE: L46P; rs769452

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

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

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs769452

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: APOE: L46P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Interaction between arsenic exposure from drinking water and genetic polymorphisms on cardiovascular disease in Bangladesh: a prospective case-cohort study.

Environmental Health Perspectives

Wu, Fen F; Jasmine, Farzana F; Kibriya, Muhammad G MG; Liu, Mengling M; Cheng, Xin X; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Jiang, Jieying J; Roy, Shantanu S; Paul-Brutus, Rachelle R; Slavkovich, Vesna V; Islam, Tariqul T; Levy, Diane D; VanderWeele, Tyler J TJ; Pierce, Brandon L BL; Graziano, Joseph H JH; Ahsan, Habibul H; Chen, Yu Y

Publication Date: 2015-05

Variant appearance in text: APOE: L46P; rs769452

PubMed Link: 25575156

Variant Present in the following documents:

• ehp.1307883.s001.508.pdf

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

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: APOE: L46P; rs769452

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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
• fgene-05-00369.pdf

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
• 1750-1326-9-11.pdf

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
• pgen.1003685.pdf

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: rs769452

PubMed Link: 22530123

Variant Present in the following documents:

• Main text
• NRI2012-480609.pdf

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
• 1471-2350-8-49.pdf

View BVdb publication page

---