APOE c.-23-280C>T

Variant ID: 19-45409579-C-T

NM_000041.2(APOE):c.-23-280C>T

This variant was identified in 10 publications

View GRCh38 version.




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: rs769448
PubMed Link: 37185708
Variant Present in the following documents:
  • Main text
  • cimb-45-00184.pdf
View BVdb publication page



In silico identification of single nucleotide variations at CpG sites regulating CpG island existence and size.

Scientific Reports
Shyamala, Nivas N; Kongettira, Chaitra Lava CL; Puranam, Kaushik K; Kupsal, Keerthi K; Kummari, Ramanjaneyulu R; Padala, Chiranjeevi C; Hanumanth, Surekha Rani SR
Publication Date: 2022-03-04

Variant appearance in text: rs769448
PubMed Link: 35246549
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_5198.pdf
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: rs769448
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Association of common genetic variants with brain microbleeds: A genome-wide association study.

Neurology
Knol, Maria J MJ; Lu, Dongwei D; Traylor, Matthew M; Adams, Hieab H H HHH; Romero, José Rafael J JRJ; Smith, Albert V AV; Fornage, Myriam M; Hofer, Edith E; Liu, Junfeng J; Hostettler, Isabel C IC; Luciano, Michelle M; Trompet, Stella S; Giese, Anne-Katrin AK; Hilal, Saima S; van den Akker, Erik B EB; Vojinovic, Dina D; Li, Shuo S; Sigurdsson, Sigurdur S; van der Lee, Sven J SJ; Jack, Clifford R CR; Wilson, Duncan D; Yilmaz, Pinar P; Satizabal, Claudia L CL; Liewald, David C M DCM; van der Grond, Jeroen J; Chen, Christopher C; Saba, Yasaman Y; van der Lugt, Aad A; Bastin, Mark E ME; Windham, B Gwen BG; Cheng, Ching Yu CY; Pirpamer, Lukas L; Kantarci, Kejal K; Himali, Jayandra J JJ; Yang, Qiong Q; Morris, Zoe Z; Beiser, Alexa S AS; Tozer, Daniel J DJ; Vernooij, Meike W MW; Amin, Najaf N; Beekman, Marian M; Koh, Jia Yu JY; Stott, David J DJ; Houlden, Henry H; Schmidt, Reinhold R; Gottesman, Rebecca F RF; MacKinnon, Andrew D AD; DeCarli, Charles C; Gudnason, Vilmundur V; Deary, Ian J IJ; van Duijn, Cornelia M CM; Slagboom, P Eline PE; Wong, Tien Yin TY; Rost, Natalia S NS; Jukema, J Wouter JW; Mosley, Thomas H TH; Werring, David J DJ; Schmidt, Helena H; Wardlaw, Joanna M JM; Ikram, M Arfan MA; Seshadri, Sudha S; Launer, Lenore J LJ; Markus, Hugh S HS; ,
Publication Date: 2020-12-15

Variant appearance in text: rs769448
PubMed Link: 32913026
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2019043927.pdf
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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: rs769448
PubMed Link: 31426376
Variant Present in the following documents:
  • jcm-08-01236-s001.pdf
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Apolipoprotein E-C1-C4-C2 gene cluster region and inter-individual variation in plasma lipoprotein levels: a comprehensive genetic association study in two ethnic groups.

Plos One
Pirim, Dilek D; Radwan, Zaheda H ZH; Wang, Xingbin X; Niemsiri, Vipavee V; Hokanson, John E JE; Hamman, Richard F RF; Feingold, Eleanor E; Bunker, Clareann H CH; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Publication Date: 2019

Variant appearance in text: rs769448
PubMed Link: 30913229
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Analysis of Mitochondrial Ribosomal Proteins and Cognitive Aging in Postmenopausal Women.

Frontiers In Genetics
Mozhui, Khyobeni K; Snively, Beverly M BM; Rapp, Stephen R SR; Wallace, Robert B RB; Williams, Robert W RW; Johnson, Karen C KC
Publication Date: 2017

Variant appearance in text: rs769448
PubMed Link: 28983317
Variant Present in the following documents:
  • Main text
  • fgene-08-00127.pdf
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Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters.

Frontiers In Aging Neuroscience
Ponomarenko, Petr P; Chadaeva, Irina I; Rasskazov, Dmitry A DA; Sharypova, Ekaterina E; Kashina, Elena V EV; Drachkova, Irina I; Zhechev, Dmitry D; Ponomarenko, Mikhail P MP; Savinkova, Ludmila K LK; Kolchanov, Nikolay N
Publication Date: 2017

Variant appearance in text: rs769448
PubMed Link: 28775688
Variant Present in the following documents:
  • Main text
  • fnagi-09-00231.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: rs769448
PubMed Link: 25502880
Variant Present in the following documents:
  • Main text
  • pone.0114618.pdf
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Genetic variants in PVRL2-TOMM40-APOE region are associated with human longevity in a Han Chinese population.

Plos One
Lu, Fang F; Guan, Huaijin H; Gong, Bo B; Liu, Xiaoqi X; Zhu, Rongrong R; Wang, Yong Y; Qian, Jingjing J; Zhou, Tianqiu T; Lan, Xiaoyan X; Wang, Pu P; Lin, Ying Y; Ma, Shi S; Lin, He H; Zhu, Xiong X; Chen, Rong R; Zhu, Xianjun X; Shi, Yi Y; Yang, Zhenglin Z
Publication Date: 2014

Variant appearance in text: rs769448
PubMed Link: 24924924
Variant Present in the following documents:
  • Main text
  • pone.0099580.pdf
View BVdb publication page