Variant ID: 11-116701560-G-A

NM_000040.1(APOC3):c.127G>A;(p.Ala43Thr)

This variant was identified in 26 publications




Publications:


The Roles of ApoC-III on the Metabolism of Triglyceride-Rich Lipoproteins in Humans.

Frontiers In Endocrinology
J Borén, CJ Packard, MR Taskinen
Publication Date: 2020

Variant appearance in text: APOC3: Ala43Thr
PubMed Link: 32849270
Variant Present in the following documents:
  • Main text
View BVdb publication page



Metabolic characterisation of disturbances in the APOC3/triglyceride-rich lipoprotein pathway through sample-based recall by genotype.

Metabolomics : Official Journal Of The Metabolomic Society
LJ Corbin, DA Hughes, AJ Chetwynd, AE Taylor, AD Southam, A Jankevics, RJM Weber, A Groom, WB Dunn, NJ Timpson
Publication Date: 2020-06-03

Variant appearance in text: APOC3: A43T
PubMed Link: 32494907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics
Y Hu, M Graff, J Haessler, S Buyske, SA Bien, R Tao, HM Highland, KK Nishimura, N Zubair, Y Lu, M Verbanck, AT Hilliard, D Klarin, SM Damrauer, YL Ho, , PWF Wilson, KM Chang, PS Tsao, K Cho, CJ O'Donnell, TL Assimes, LE Petty, JE Below, O Dikilitas, DJ Schaid, ML Kosel, IJ Kullo, LJ Rasmussen-Torvik, GP Jarvik, Q Feng, WQ Wei, EB Larson, FD Mentch, B Almoguera, PM Sleiman, LM Raffield, A Correa, LW Martin, M Daviglus, TC Matise, JL Ambite, CS Carlson, R Do, RJF Loos, LR Wilkens, L Le Marchand, C Haiman, DO Stram, LA Hindorff, KE North, C Kooperberg, I Cheng, U Peters
Publication Date: 2020-03

Variant appearance in text: rs147210663
PubMed Link: 32226016
Variant Present in the following documents:
  • Main text
View BVdb publication page



Emerging evidences for the opposite role of apolipoprotein C3 and apolipoprotein A5 in lipid metabolism and coronary artery disease.

Lipids In Health And Disease
W Dai, Z Zhang, C Yao, S Zhao
Publication Date: 2019-12-13

Variant appearance in text: APOC3: A43T
PubMed Link: 31836003
Variant Present in the following documents:
  • 12944_2019_Article_1166.pdf
  • aaaaaMain text
View BVdb publication page



Emerging Evidence that ApoC-III Inhibitors Provide Novel Options to Reduce the Residual CVD.

Current Atherosclerosis Reports
MR Taskinen, CJ Packard, J Borén
Publication Date: 2019-05-20

Variant appearance in text: APOC3: Ala43Thr
PubMed Link: 31111320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Nature Communications
TO Kilpeläinen, AR Bentley, R Noordam, YJ Sung, K Schwander, TW Winkler, H Jakupović, DI Chasman, A Manning, I Ntalla, H Aschard, MR Brown, L de Las Fuentes, N Franceschini, X Guo, D Vojinovic, S Aslibekyan, MF Feitosa, M Kho, SK Musani, M Richard, H Wang, Z Wang, TM Bartz, LF Bielak, A Campbell, R Dorajoo, V Fisher, FP Hartwig, ARVR Horimoto, C Li, KK Lohman, J Marten, X Sim, AV Smith, SM Tajuddin, M Alver, M Amini, M Boissel, JF Chai, X Chen, J Divers, E Evangelou, C Gao, M Graff, SE Harris, M He, FC Hsu, AU Jackson, JH Zhao, AT Kraja, B Kühnel, F Laguzzi, LP Lyytikäinen, IM Nolte, R Rauramaa, M Riaz, A Robino, R Rueedi, HM Stringham, F Takeuchi, PJ van der Most, TV Varga, N Verweij, EB Ware, W Wen, X Li, LR Yanek, N Amin, DK Arnett, E Boerwinkle, M Brumat, B Cade, M Canouil, YI Chen, MP Concas, J Connell, R de Mutsert, HJ de Silva, PS de Vries, A Demirkan, J Ding, CB Eaton, JD Faul, Y Friedlander, KP Gabriel, M Ghanbari, F Giulianini, CC Gu, D Gu, TB Harris, J He, S Heikkinen, CK Heng, SC Hunt, MA Ikram, JB Jonas, WP Koh, P Komulainen, JE Krieger, SB Kritchevsky, Z Kutalik, J Kuusisto, CD Langefeld, C Langenberg, LJ Launer, K Leander, RN Lemaitre, CE Lewis, J Liang, , J Liu, R Mägi, A Manichaikul, T Meitinger, A Metspalu, Y Milaneschi, KL Mohlke, TH Mosley, AD Murray, MA Nalls, EK Nang, CP Nelson, S Nona, JM Norris, CV Nwuba, J O'Connell, ND Palmer, GJ Papanicolau, R Pazoki, NL Pedersen, A Peters, PA Peyser, O Polasek, DJ Porteous, A Poveda, OT Raitakari, SS Rich, N Risch, JG Robinson, LM Rose, I Rudan, PJ Schreiner, RA Scott, SS Sidney, M Sims, JA Smith, H Snieder, T Sofer, JM Starr, B Sternfeld, K Strauch, H Tang, KD Taylor, MY Tsai, J Tuomilehto, AG Uitterlinden, MY van der Ende, D van Heemst, T Voortman, M Waldenberger, P Wennberg, G Wilson, YB Xiang, J Yao, C Yu, JM Yuan, W Zhao, AB Zonderman, DM Becker, M Boehnke, DW Bowden, U de Faire, IJ Deary, P Elliott, T Esko, BI Freedman, P Froguel, P Gasparini, C Gieger, N Kato, M Laakso, TA Lakka, T Lehtimäki, PKE Magnusson, AJ Oldehinkel, BWJH Penninx, NJ Samani, XO Shu, P van der Harst, JV Van Vliet-Ostaptchouk, P Vollenweider, LE Wagenknecht, YX Wang, NJ Wareham, DR Weir, T Wu, W Zheng, X Zhu, MK Evans, PW Franks, V Gudnason, C Hayward, BL Horta, TN Kelly, Y Liu, KE North, AC Pereira, PM Ridker, ES Tai, RM van Dam, ER Fox, SLR Kardia, CT Liu, DO Mook-Kanamori, MA Province, S Redline, CM van Duijn, JI Rotter, CB Kooperberg, WJ Gauderman, BM Psaty, K Rice, PB Munroe, M Fornage, LA Cupples, CN Rotimi, AC Morrison, DC Rao, RJF Loos
Publication Date: 2019-01-22

Variant appearance in text: rs147210663
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM10_ESM.xlsx
  • 41467_2018_8008_MOESM12_ESM.xlsx
  • 41467_2018_8008_MOESM7_ESM.xlsx
  • 41467_2018_8008_MOESM9_ESM.xlsx
View BVdb publication page



Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.

Nature Communications
A Gilly, D Suveges, K Kuchenbaecker, M Pollard, L Southam, K Hatzikotoulas, AE Farmaki, T Bjornland, R Waples, EVR Appel, E Casalone, G Melloni, B Kilian, NW Rayner, I Ntalla, K Kundu, K Walter, J Danesh, A Butterworth, I Barroso, E Tsafantakis, G Dedoussis, I Moltke, E Zeggini
Publication Date: 2018-11-07

Variant appearance in text: rs147210663
PubMed Link: 30405126
Variant Present in the following documents:
  • 41467_2018_7070_MOESM5_ESM.xlsx
View BVdb publication page



Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Jama Cardiology
LA Lotta, ID Stewart, SJ Sharp, FR Day, S Burgess, J Luan, N Bowker, L Cai, C Li, LBL Wittemans, ND Kerrison, KT Khaw, MI McCarthy, S O'Rahilly, RA Scott, DB Savage, JRB Perry, C Langenberg, NJ Wareham
Publication Date: 2018-10-01

Variant appearance in text: APOC3: Ala43Thr; rs147210663
PubMed Link: 30326043
Variant Present in the following documents:
  • jamacardiol-3-957-s001.pdf
View BVdb publication page



Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.

Bmc Medical Genomics
DC Crawford, NA Restrepo, KE Diggins, E Farber-Eger, QS Wells
Publication Date: 2018-09-14

Variant appearance in text: rs147210663
PubMed Link: 30255797
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
Y Zhou, R Mägi, L Milani, VM Lauschke
Publication Date: 2018-10

Variant appearance in text: APOC3: A43T; rs147210663
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports
D Tang, M Fakiola, G Syn, D Anderson, HJ Cordell, ESH Scaman, E Davis, SJ Miles, T McLeay, SE Jamieson, T Lassmann, JM Blackwell
Publication Date: 2018-07-19

Variant appearance in text: APOC3: 127G>A; Ala43Thr; rs147210663
PubMed Link: 30026549
Variant Present in the following documents:
  • 41598_2018_29279_MOESM1_ESM.pdf
View BVdb publication page



Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Circulation. Cardiovascular Genetics
WC Hsueh, AK Nair, S Kobes, P Chen, HHH Göring, TI Pollin, A Malhotra, WC Knowler, LJ Baier, RL Hanson
Publication Date: 2017-12

Variant appearance in text: APOC3: Ala43Thr; rs147210663
PubMed Link: 29237685
Variant Present in the following documents:
  • Main text
  • NIHMS917321-supplement-001809_-_Supplemental_material.pdf
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer
Publication Date: 2017-12

Variant appearance in text: rs147210663
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Personalized Management of Cardiovascular Disorders.

Medical Principles And Practice : International Journal Of The Kuwait University, Health Science Centre
KK Jain
Publication Date: 2017

Variant appearance in text: APOC3: A43T
PubMed Link: 28898880
Variant Present in the following documents:
  • Main text
View BVdb publication page



A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels.

Nature Medicine
SA Khetarpal, X Zeng, JS Millar, C Vitali, AVH Somasundara, P Zanoni, JA Landro, N Barucci, WJ Zavadoski, Z Sun, H de Haard, IV Toth, GM Peloso, P Natarajan, M Cuchel, S Lund-Katz, MC Phillips, AR Tall, S Kathiresan, P DaSilva-Jardine, NA Yates, DJ Rader
Publication Date: 2017-09

Variant appearance in text: APOC3: A43T
PubMed Link: 28825717
Variant Present in the following documents:
  • Main text
  • NIHMS915479-supplement-Life_Sciences_Reporting_Summary.pdf
  • NIHMS915479-supplement-Supplementary_Figures_and_Tables.pdf
View BVdb publication page



APOC3 induces endothelial dysfunction through TNF-α and JAM-1.

Lipids In Health And Disease
Y Tao, Y Xiong, H Wang, S Chu, R Zhong, J Wang, G Wang, X Ren, J Yu
Publication Date: 2016-09-13

Variant appearance in text: APOC3: A43T
PubMed Link: 27619170
Variant Present in the following documents:
  • Main text
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
A Gilly, GR Ritchie, L Southam, AE Farmaki, E Tsafantakis, G Dedoussis, E Zeggini
Publication Date: 2016-06-01

Variant appearance in text: APOC3: A43T
PubMed Link: 27146844
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
DJ Carey, SN Fetterolf, FD Davis, WA Faucett, HL Kirchner, U Mirshahi, MF Murray, DT Smelser, GS Gerhard, DH Ledbetter
Publication Date: 2016-09

Variant appearance in text: APOC3: A43T; rs147210663
PubMed Link: 26866580
Variant Present in the following documents:
  • Main text
  • NIHMS738220-supplement-Supplementary___Appendix__online_only_material__etc__.doc
View BVdb publication page



What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

Current Opinion In Lipidology
JM Jeff, GM Peloso, R Do
Publication Date: 2016-04

Variant appearance in text: APOC3: A43T
PubMed Link: 26844526
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Copenhagen City Heart Study (Østerbroundersøgelsen).

Global Cardiology Science & Practice
Y Aguib, J Al Suwaidi
Publication Date: 2015

Variant appearance in text: APOC3: A43T
PubMed Link: 26779513
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of APOC3 Loss-of-Function Mutations With Plasma Lipids and Subclinical Atherosclerosis: The Multi-Ethnic BioImage Study.

Journal Of The American College Of Cardiology
P Natarajan, P Kohli, U Baber, KH Nguyen, S Sartori, DF Reilly, R Mehran, P Muntendam, V Fuster, DJ Rader, S Kathiresan
Publication Date: 2015-11-03

Variant appearance in text: APOC3: A43T
PubMed Link: 26516010
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOC3: Triglycerides do matter.

Global Cardiology Science & Practice
M Hassan
Publication Date: 2014

Variant appearance in text: APOC3: A43T
PubMed Link: 25763375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Apolipoprotein C-III: a potent modulator of hypertriglyceridemia and cardiovascular disease.

Current Opinion In Endocrinology, Diabetes, And Obesity
AB Kohan
Publication Date: 2015-04

Variant appearance in text: APOC3: A43T
PubMed Link: 25692924
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOC3 may not be a predictor of risk of ischemic vascular disease in the Chinese population.

F1000Research
L Tang, ZP Cheng, QY Wang, W Zeng, H Liu, YY Wu, B Hu, Y Hu
Publication Date: 2014

Variant appearance in text: APOC3: A43T
PubMed Link: 25653838
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

The New England Journal Of Medicine
, J Crosby, GM Peloso, PL Auer, DR Crosslin, NO Stitziel, LA Lange, Y Lu, ZZ Tang, H Zhang, G Hindy, N Masca, K Stirrups, S Kanoni, R Do, G Jun, Y Hu, HM Kang, C Xue, A Goel, M Farrall, S Duga, PA Merlini, R Asselta, D Girelli, O Olivieri, N Martinelli, W Yin, D Reilly, E Speliotes, CS Fox, K Hveem, OL Holmen, M Nikpay, DN Farlow, TL Assimes, N Franceschini, J Robinson, KE North, LW Martin, M DePristo, N Gupta, SA Escher, JH Jansson, N Van Zuydam, CN Palmer, N Wareham, W Koch, T Meitinger, A Peters, W Lieb, R Erbel, IR Konig, J Kruppa, F Degenhardt, O Gottesman, EP Bottinger, CJ O'Donnell, BM Psaty, CM Ballantyne, G Abecasis, JM Ordovas, O Melander, H Watkins, M Orho-Melander, D Ardissino, RJ Loos, R McPherson, CJ Willer, J Erdmann, AS Hall, NJ Samani, P Deloukas, H Schunkert, JG Wilson, C Kooperberg, SS Rich, RP Tracy, DY Lin, D Altshuler, S Gabriel, DA Nickerson, GP Jarvik, LA Cupples, AP Reiner, E Boerwinkle, S Kathiresan
Publication Date: 2014-07-03

Variant appearance in text: APOC3: A43T; rs147210663
PubMed Link: 24941081
Variant Present in the following documents:
  • Main text
  • NIHMS619895-supplement-Supplement1.pdf
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
GM Peloso, PL Auer, JC Bis, A Voorman, AC Morrison, NO Stitziel, JA Brody, SA Khetarpal, JR Crosby, M Fornage, A Isaacs, J Jakobsdottir, MF Feitosa, G Davies, JE Huffman, A Manichaikul, B Davis, K Lohman, AY Joon, AV Smith, ML Grove, P Zanoni, V Redon, S Demissie, K Lawson, U Peters, C Carlson, RD Jackson, KK Ryckman, RH Mackey, JG Robinson, DS Siscovick, PJ Schreiner, JC Mychaleckyj, JS Pankow, A Hofman, AG Uitterlinden, TB Harris, KD Taylor, JM Stafford, LM Reynolds, RE Marioni, A Dehghan, OH Franco, AP Patel, Y Lu, G Hindy, O Gottesman, EP Bottinger, O Melander, M Orho-Melander, RJ Loos, S Duga, PA Merlini, M Farrall, A Goel, R Asselta, D Girelli, N Martinelli, SH Shah, WE Kraus, M Li, DJ Rader, MP Reilly, R McPherson, H Watkins, D Ardissino, , Q Zhang, J Wang, MY Tsai, HA Taylor, A Correa, ME Griswold, LA Lange, JM Starr, I Rudan, G Eiriksdottir, LJ Launer, JM Ordovas, D Levy, YD Chen, AP Reiner, C Hayward, O Polasek, IJ Deary, IB Borecki, Y Liu, V Gudnason, JG Wilson, CM van Duijn, C Kooperberg, SS Rich, BM Psaty, JI Rotter, CJ O'Donnell, K Rice, E Boerwinkle, S Kathiresan, LA Cupples
Publication Date: 2014-02-06

Variant appearance in text: rs147210663
PubMed Link: 24507774
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227667.3 c.127G>A p.Ala43Thr missense_variant 3/4 -
ENST00000375345.1 c.181G>A p.Ala61Thr missense_variant 3/4 -
ENST00000433777.1 c.127G>A p.Ala43Thr missense_variant 3/3 -
ENST00000470144.1 n.159G>A - non_coding_transcript_exon_variant 3/4 -
NM_000040.3 c.127G>A p.Ala43Thr missense_variant 3/4 -