APOE c.44-469A>G

Variant ID: 19-45410548-A-G

NM_000041.2(APOE):c.44-469A>G

This variant was identified in 4 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: rs115299243
PubMed Link: 37185708
Variant Present in the following documents:
  • Main text
  • cimb-45-00184.pdf
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: rs115299243
PubMed Link: 31426376
Variant Present in the following documents:
  • jcm-08-01236-s001.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: rs115299243
PubMed Link: 25502880
Variant Present in the following documents:
  • Main text
  • pone.0114618.pdf
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: rs115299243
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
  • pgen.1003379.pdf
  • pgen.1003379.s001.pdf
View BVdb publication page