APOC3 c.179+1G>T

Variant ID: 11-116701613-G-T

NM_000040.1(APOC3):c.179+1G>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Ethnic differences in ApoC-III concentration and the risk of cardiovascular disease: No evidence for the cardioprotective role of rare/loss of function APOC3 variants in non-Europeans.

American Heart Journal Plus : Cardiology Research And Practice
Rout, Madhusmita M; Lerner, Megan M; Blackett, Piers R PR; Peyton, Marvin D MD; Stavrakis, Stavros S; Sidorov, Evgeny E; Sanghera, Dharambir K DK
Publication Date: 2022-01

Variant appearance in text: rs140621530
PubMed Link: 35528316
Variant Present in the following documents:
  • Main text
  • nihms-1798692.pdf
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Targeting ApoC3 Paradoxically Aggravates Atherosclerosis in Hamsters With Severe Refractory Hypercholesterolemia.

Frontiers In Cardiovascular Medicine
Xu, Yitong Y; Guo, Jiabao J; Zhang, Ling L; Miao, Guolin G; Lai, Pingping P; Zhang, Wenxi W; Liu, Lili L; Hou, Xinlin X; Wang, Yuhui Y; Huang, Wei W; Liu, George G; Gao, Mingming M; Xian, Xunde X
Publication Date: 2022

Variant appearance in text: rs140621530
PubMed Link: 35187136
Variant Present in the following documents:
  • Main text
  • fcvm-09-840358.pdf
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APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups.

Lipids In Health And Disease
Goyal, Shiwali S; Tanigawa, Yosuke Y; Zhang, Weihua W; Chai, Jin-Fang JF; Almeida, Marcio M; Sim, Xueling X; Lerner, Megan M; Chainakul, Juliane J; Ramiu, Jonathan Garcia JG; Seraphin, Chanel C; Apple, Blair B; Vaughan, April A; Muniu, James J; Peralta, Juan J; Lehman, Donna M DM; Ralhan, Sarju S; Wander, Gurpreet S GS; Singh, Jai Rup JR; Mehra, Narinder K NK; Sidorov, Evgeny E; Peyton, Marvin D MD; Blackett, Piers R PR; Curran, Joanne E JE; Tai, E Shyong ES; van Dam, Rob R; Cheng, Ching-Yu CY; Duggirala, Ravindranath R; Blangero, John J; Chambers, John C JC; Sabanayagam, Charumathi C; Kooner, Jaspal S JS; Rivas, Manuel A MA; Aston, Christopher E CE; Sanghera, Dharambir K DK
Publication Date: 2021-09-21

Variant appearance in text: rs140621530
PubMed Link: 34548093
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1531.pdf
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Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort.

Bmc Medical Genomics
Rosenthal, Elisabeth A EA; Crosslin, David R DR; Gordon, Adam S AS; Carrell, David S DS; Stanaway, Ian B IB; Larson, Eric B EB; Grafton, Jane J; Wei, Wei-Qi WQ; Denny, Joshua C JC; Feng, Qi-Ping QP; Shah, Amy S AS; Sturm, Amy C AC; Ritchie, Marylyn D MD; Pacheco, Jennifer A JA; Hakonarson, Hakon H; Rasmussen-Torvik, Laura J LJ; Connolly, John J JJ; Fan, Xiao X; Safarova, Maya M; Kullo, Iftikhar J IJ; Jarvik, Gail P GP
Publication Date: 2021-01-06

Variant appearance in text: rs140621530
PubMed Link: 33407432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Apolipoprotein C-III and cardiovascular diseases: when genetics meet molecular pathologies.

Molecular Biology Reports
Dib, Israa I; Khalil, Alia A; Chouaib, Racha R; El-Makhour, Yolla Y; Noureddine, Hiba H
Publication Date: 2021-01

Variant appearance in text: rs140621530
PubMed Link: 33389539
Variant Present in the following documents:
  • Main text
  • 11033_2020_Article_6071.pdf
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Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease.

Journal Of The American College Of Cardiology
Saeed, Anum A; Feofanova, Elena V EV; Yu, Bing B; Sun, Wensheng W; Virani, Salim S SS; Nambi, Vijay V; Coresh, Josef J; Guild, Cameron S CS; Boerwinkle, Eric E; Ballantyne, Christie M CM; Hoogeveen, Ron C RC
Publication Date: 2018-07-10

Variant appearance in text: rs140621530
PubMed Link: 29976289
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: APOC3: 179+1G>T
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.

Human Molecular Genetics
Gilly, Arthur A; Ritchie, Graham Rs GR; Southam, Lorraine L; Farmaki, Aliki-Eleni AE; Tsafantakis, Emmanouil E; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2016-06-01

Variant appearance in text: rs140621530
PubMed Link: 27146844
Variant Present in the following documents:
  • Main text
  • ddw088.pdf
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Lipoprotein associated phospholipase A2 activity, apolipoprotein C3 loss-of-function variants and cardiovascular disease: The Atherosclerosis Risk In Communities Study.

Atherosclerosis
Pokharel, Yashashwi Y; Sun, Wensheng W; Polfus, Linda M LM; Folsom, Aaron R AR; Heiss, Gerardo G; Sharrett, A Richey AR; Boerwinkle, Eric E; Ballantyne, Christie M CM; Hoogeveen, Ron C RC
Publication Date: 2015-08

Variant appearance in text: rs140621530
PubMed Link: 26117401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

American Journal Of Human Genetics
Peloso, Gina M GM; Auer, Paul L PL; Bis, Joshua C JC; Voorman, Arend A; Morrison, Alanna C AC; Stitziel, Nathan O NO; Brody, Jennifer A JA; Khetarpal, Sumeet A SA; Crosby, Jacy R JR; Fornage, Myriam M; Isaacs, Aaron A; Jakobsdottir, Johanna J; Feitosa, Mary F MF; Davies, Gail G; Huffman, Jennifer E JE; Manichaikul, Ani A; Davis, Brian B; Lohman, Kurt K; Joon, Aron Y AY; Smith, Albert V AV; Grove, Megan L ML; Zanoni, Paolo P; Redon, Valeska V; Demissie, Serkalem S; Lawson, Kim K; Peters, Ulrike U; Carlson, Christopher C; Jackson, Rebecca D RD; Ryckman, Kelli K KK; Mackey, Rachel H RH; Robinson, Jennifer G JG; Siscovick, David S DS; Schreiner, Pamela J PJ; Mychaleckyj, Josyf C JC; Pankow, James S JS; Hofman, Albert A; Uitterlinden, Andre G AG; Harris, Tamara B TB; Taylor, Kent D KD; Stafford, Jeanette M JM; Reynolds, Lindsay M LM; Marioni, Riccardo E RE; Dehghan, Abbas A; Franco, Oscar H OH; Patel, Aniruddh P AP; Lu, Yingchang Y; Hindy, George G; Gottesman, Omri O; Bottinger, Erwin P EP; Melander, Olle O; Orho-Melander, Marju M; Loos, Ruth J F RJ; Duga, Stefano S; Merlini, Piera Angelica PA; Farrall, Martin M; Goel, Anuj A; Asselta, Rosanna R; Girelli, Domenico D; Martinelli, Nicola N; Shah, Svati H SH; Kraus, William E WE; Li, Mingyao M; Rader, Daniel J DJ; Reilly, Muredach P MP; McPherson, Ruth R; Watkins, Hugh H; Ardissino, Diego D; , ; Zhang, Qunyuan Q; Wang, Judy J; Tsai, Michael Y MY; Taylor, Herman A HA; Correa, Adolfo A; Griswold, Michael E ME; Lange, Leslie A LA; Starr, John M JM; Rudan, Igor I; Eiriksdottir, Gudny G; Launer, Lenore J LJ; Ordovas, Jose M JM; Levy, Daniel D; Chen, Y-D Ida YD; Reiner, Alexander P AP; Hayward, Caroline C; Polasek, Ozren O; Deary, Ian J IJ; Borecki, Ingrid B IB; Liu, Yongmei Y; Gudnason, Vilmundur V; Wilson, James G JG; van Duijn, Cornelia M CM; Kooperberg, Charles C; Rich, Stephen S SS; Psaty, Bruce M BM; Rotter, Jerome I JI; O'Donnell, Christopher J CJ; Rice, Kenneth K; Boerwinkle, Eric E; Kathiresan, Sekar S; Cupples, L Adrienne LA
Publication Date: 2014-02-06

Variant appearance in text: rs140621530
PubMed Link: 24507774
Variant Present in the following documents:
  • Main text
View BVdb publication page