Variant ID: 11-116701353-C-T

NM_000040.1(APOC3):c.55C>T;(p.Arg19*)

This variant was identified in 74 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: R19X
PubMed Link: 32849270
Variant Present in the following documents:
  • Main text
View BVdb publication page



Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Global Heart
F Alnouri, FA Al-Allaf, M Athar, Z Abduljaleel, M Alabdullah, D Alammari, M Alanazi, F Alkaf, A Allehyani, MA Alotaiby, A Alshehri, A Bouazzaoui, H Karrar, MM Taher
Publication Date: 2020-02-28

Variant appearance in text: APOC3: 55C>T; R19*; rs76353203
PubMed Link: 32489792
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantile-dependent expressivity of postprandial lipemia.

Plos One
PT Williams
Publication Date: 2020

Variant appearance in text: APOC3: Arg19Ter; rs76353203
PubMed Link: 32101585
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequence analysis and variant identification at the APOC3 gene locus indicates association of rs5218 with BMI in a sample of Kuwaiti's.

Lipids In Health And Disease
ZH Malalla, AE Al-Serri, HM AlAskar, WY Al-Kandari, SA Al-Bustan
Publication Date: 2019-12-19

Variant appearance in text: rs76353203
PubMed Link: 31856839
Variant Present in the following documents:
  • 12944_2019_1165_MOESM1_ESM.docx
  • 12944_2019_Article_1165.pdf
  • aaaaaMain 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: R19X
PubMed Link: 31836003
Variant Present in the following documents:
  • 12944_2019_Article_1166.pdf
  • aaaaaMain text
View BVdb publication page



2018 George Lyman Duff Memorial Lecture: Genetics and Genomics of Coronary Artery Disease: A Decade of Progress.

Arteriosclerosis, Thrombosis, And Vascular Biology
R McPherson
Publication Date: 2019-10

Variant appearance in text: APOC3: R19X
PubMed Link: 31462092
Variant Present in the following documents:
  • Main text
  • atv-39-1925.pdf
View BVdb publication page



Life is complicated: so is apoCIII.

Journal Of Lipid Research
G Reyes-Soffer, HN Ginsberg
Publication Date: 2019-08

Variant appearance in text: APOC3: R19X
PubMed Link: 31239286
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Molecular Genetics & Genomic Medicine
D Akdeniz, SB Tuncer, R Kebudi, B Celik, G Kuru, S Kilic, O Sukruoglu Erdogan, M Avsar, S Buyukkapu Bay, S Tuncer, H Yazici
Publication Date: 2019-08

Variant appearance in text: APOC3: 55C>T; Arg19Ter; rs76353203
PubMed Link: 31207142
Variant Present in the following documents:
  • Main text
  • MGG3-7-e785.pdf
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: R19X
PubMed Link: 31111320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Apolipoprotein profiling as a personalized approach to the diagnosis and treatment of dyslipidaemia.

Annals Of Clinical Biochemistry
L Renee Ruhaak, A van der Laarse, CM Cobbaert
Publication Date: 2019-05

Variant appearance in text: APOC3: R19X
PubMed Link: 30889974
Variant Present in the following documents:
  • 10.1177_0004563219827620.pdf
  • aaaaaMain text
View BVdb publication page



Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

Jama
BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano
Publication Date: 2019-01-29

Variant appearance in text: rs76353203
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page



Effects of APOC3 Heterozygous Deficiency on Plasma Lipid and Lipoprotein Metabolism.

Arteriosclerosis, Thrombosis, And Vascular Biology
G Reyes-Soffer, C Sztalryd, RB Horenstein, S Holleran, A Matveyenko, T Thomas, R Nandakumar, C Ngai, W Karmally, HN Ginsberg, R Ramakrishnan, TI Pollin
Publication Date: 2019-01

Variant appearance in text: APOC3: R19X
PubMed Link: 30580564
Variant Present in the following documents:
  • Main text
  • nihms-1511118.pdf
  • NIHMS1511118-supplement-Supplemental_Material.pdf
View BVdb publication page



Increased usual physical activity is associated with a blunting of the triglyceride response to a high-fat meal.

Journal Of Clinical Lipidology
BD Mitchell, G Kalra, KA Ryan, M Zhang, C Sztalryd, NI Steinle, SI Taylor, S Snitker, JP Lewis, M Miller, AR Shuldiner, H Xu
Publication Date: 2019

Variant appearance in text: APOC3: R19X; rs76353203
PubMed Link: 30553757
Variant Present in the following documents:
  • Main text
  • nihms-1513140.pdf
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: rs76353203
PubMed Link: 30405126
Variant Present in the following documents:
  • 41467_2018_7070_MOESM4_ESM.xlsx
  • 41467_2018_7070_MOESM5_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Translational Psychiatry
RL Kember, L Hou, X Ji, LH Andersen, A Ghorai, LN Estrella, L Almasy, FJ McMahon, C Brown, M Bućan
Publication Date: 2018-10-12

Variant appearance in text: rs76353203
PubMed Link: 30315151
Variant Present in the following documents:
  • 41398_2018_226_MOESM2_ESM.xlsx
  • aaaaaMain text
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: APOC3: R19X; rs76353203
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: R19X; rs76353203
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS Reveal Targets in Vessel Wall Pathways to Treat Coronary Artery Disease.

Frontiers In Cardiovascular Medicine
AW Turner, D Wong, CN Dreisbach, CL Miller
Publication Date: 2018

Variant appearance in text: rs76353203
PubMed Link: 29988570
Variant Present in the following documents:
  • Main text
View BVdb publication page



Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease.

Journal Of The American College Of Cardiology
A Saeed, EV Feofanova, B Yu, W Sun, SS Virani, V Nambi, J Coresh, CS Guild, E Boerwinkle, CM Ballantyne, RC Hoogeveen
Publication Date: 2018-07-10

Variant appearance in text: rs76353203
PubMed Link: 29976289
Variant Present in the following documents:
  • Main text
View BVdb publication page



An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort.

Journal Of Lipid Research
X Geng, MR Irvin, B Hidalgo, S Aslibekyan, V Srinivasasainagendra, P An, AC Frazier-Wood, HK Tiwari, T Dave, K Ryan, JM Ordovas, RJ Straka, MF Feitosa, PN Hopkins, I Borecki, MA Province, BD Mitchell, DK Arnett, D Zhi
Publication Date: 2018-04

Variant appearance in text: rs76353203
PubMed Link: 29463568
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulation of intestinal lipid and lipoprotein metabolism by the proglucagon-derived peptides glucagon like peptide 1 and glucagon like peptide 2.

Current Opinion In Lipidology
EE Mulvihill
Publication Date: 2018-04

Variant appearance in text: APOC3: R19X
PubMed Link: 29432213
Variant Present in the following documents:
  • Main text
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: R19X; rs76353203
PubMed Link: 29237685
Variant Present in the following documents:
  • Main text
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: rs76353203
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: R19X
PubMed Link: 28898880
Variant Present in the following documents:
  • Main text
View BVdb publication page



The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation.

Journal Of Lipid Research
M Sundaram, KR Curtis, M Amir Alipour, ND LeBlond, KD Margison, RA Yaworski, RJ Parks, AD McIntyre, RA Hegele, MD Fullerton, Z Yao
Publication Date: 2017-11

Variant appearance in text: APOC3: Arg19X
PubMed Link: 28887372
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: R19*
PubMed Link: 28825717
Variant Present in the following documents:
  • Main text
  • NIHMS915479-supplement-Supplementary_Figures_and_Tables.pdf
View BVdb publication page



Key differences between apoC-III regulation and expression in intestine and liver.

Biochemical And Biophysical Research Communications
G West, C Rodia, D Li, Z Johnson, H Dong, AB Kohan
Publication Date: 2017-09-23

Variant appearance in text: APOC3: R19X
PubMed Link: 28739253
Variant Present in the following documents:
  • Main text
View BVdb publication page



Apolipoprotein C-III inhibits triglyceride hydrolysis by GPIHBP1-bound LPL.

Journal Of Lipid Research
M Larsson, CM Allan, RS Jung, PJ Heizer, AP Beigneux, SG Young, LG Fong
Publication Date: 2017-09

Variant appearance in text: APOC3: R19X
PubMed Link: 28694296
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.

Nature Communications
Y Xue, M Mezzavilla, M Haber, S McCarthy, Y Chen, V Narasimhan, A Gilly, Q Ayub, V Colonna, L Southam, C Finan, A Massaia, H Chheda, P Palta, G Ritchie, J Asimit, G Dedoussis, P Gasparini, A Palotie, S Ripatti, N Soranzo, D Toniolo, JF Wilson, R Durbin, C Tyler-Smith, E Zeggini
Publication Date: 2017-06-23

Variant appearance in text: rs76353203
PubMed Link: 28643794
Variant Present in the following documents:
  • Main text
  • ncomms15927-s2.pdf
View BVdb publication page



Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Nature Communications
L Southam, A Gilly, D Süveges, AE Farmaki, J Schwartzentruber, I Tachmazidou, A Matchan, NW Rayner, E Tsafantakis, M Karaleftheri, Y Xue, G Dedoussis, E Zeggini
Publication Date: 2017-05-26

Variant appearance in text: rs76353203
PubMed Link: 28548082
Variant Present in the following documents:
  • Main text
  • ncomms15606-s1.pdf
View BVdb publication page



The impact of rare and low-frequency genetic variants in common disease.

Genome Biology
L Bomba, K Walter, N Soranzo
Publication Date: 2017-04-27

Variant appearance in text: rs76353203
PubMed Link: 28449691
Variant Present in the following documents:
  • 13059_2017_1212_MOESM1_ESM.xlsx
View BVdb publication page



Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Nature
D Saleheen, P Natarajan, IM Armean, W Zhao, A Rasheed, SA Khetarpal, HH Won, KJ Karczewski, AH O'Donnell-Luria, KE Samocha, B Weisburd, N Gupta, M Zaidi, M Samuel, A Imran, S Abbas, F Majeed, M Ishaq, S Akhtar, K Trindade, M Mucksavage, N Qamar, KS Zaman, Z Yaqoob, T Saghir, SNH Rizvi, A Memon, N Hayyat Mallick, M Ishaq, SZ Rasheed, FU Memon, K Mahmood, N Ahmed, R Do, RM Krauss, DG MacArthur, S Gabriel, ES Lander, MJ Daly, P Frossard, J Danesh, DJ Rader, S Kathiresan
Publication Date: 2017-04-12

Variant appearance in text: APOC3: Arg19Ter
PubMed Link: 28406212
Variant Present in the following documents:
  • Main text
  • NIHMS857566-supplement-Other_Suppl__Tables_.docx
View BVdb publication page



An APOC3 3'UTR variant associated with plasma triglycerides levels and coronary heart disease by creating a functional miR-4271 binding site.

Scientific Reports
SL Hu, GL Cui, J Huang, JG Jiang, DW Wang
Publication Date: 2016-09-14

Variant appearance in text: APOC3: R19X
PubMed Link: 27624799
Variant Present in the following documents:
  • Main text
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: R19X
PubMed Link: 27619170
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
S Kanoni, NG Masca, KE Stirrups, TV Varga, HR Warren, RA Scott, L Southam, W Zhang, H Yaghootkar, M Müller-Nurasyid, A Couto Alves, RJ Strawbridge, L Lataniotis, N An Hashim, C Besse, A Boland, PS Braund, JM Connell, A Dominiczak, AE Farmaki, S Franks, H Grallert, JH Jansson, M Karaleftheri, S Keinänen-Kiukaanniemi, A Matchan, D Pasko, A Peters, N Poulter, NW Rayner, F Renström, O Rolandsson, M Sabater-Lleal, B Sennblad, P Sever, D Shields, A Silveira, AV Stanton, K Strauch, M Tomaszewski, E Tsafantakis, M Waldenberger, AI Blakemore, G Dedoussis, SA Escher, JS Kooner, MI McCarthy, CN Palmer, , A Hamsten, MJ Caulfield, TM Frayling, MD Tobin, MR Jarvelin, E Zeggini, C Gieger, JC Chambers, NJ Wareham, PB Munroe, PW Franks, NJ Samani, P Deloukas
Publication Date: 2016-09-15

Variant appearance in text: APOC3: Arg19TER; rs76353203
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Circulation. Cardiovascular Genetics
GM Peloso, LA Lange, TV Varga, DA Nickerson, JD Smith, ME Griswold, S Musani, LM Polfus, H Mei, S Gabriel, RC Quarells, D Altshuler, E Boerwinkle, MJ Daly, B Neale, A Correa, AP Reiner, JG Wilson, S Kathiresan
Publication Date: 2016-08

Variant appearance in text: APOC3: R19*
PubMed Link: 27422940
Variant Present in the following documents:
  • NIHMS803853-supplement-001410_-_Supplemental_Material.pdf
View BVdb publication page



Triglyceride-Rich Lipoproteins and Remnants: Targets for Therapy?

Current Cardiology Reports
GM Dallinga-Thie, J Kroon, J Borén, MJ Chapman
Publication Date: 2016-07

Variant appearance in text: APOC3: R19X
PubMed Link: 27216847
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: Arg19Ter; rs76353203
PubMed Link: 27146844
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland.

Diabetologia
E Zeggini, AL Gloyn, T Hansen
Publication Date: 2016-05

Variant appearance in text: APOC3: Arg19Ter; rs76353203
PubMed Link: 26993633
Variant Present in the following documents:
  • Main text
View BVdb publication page



An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder.

Scientific Reports
Lde A Lima, AC Feio-dos-Santos, SI Belangero, A Gadelha, RA Bressan, GA Salum, PM Pan, TS Moriyama, AS Graeff-Martins, AC Tamanaha, P Alvarenga, FV Krieger, B Fleitlich-Bilyk, AP Jackowski, E Brietzke, JR Sato, GV Polanczyk, Jde J Mari, GG Manfro, MC do Rosário, EC Miguel, RD Puga, AC Tahira, VN Souza, T Chile, GR Gouveia, SN Simões, X Chang, R Pellegrino, L Tian, JT Glessner, RF Hashimoto, LA Rohde, PM Sleiman, H Hakonarson, H Brentani
Publication Date: 2016-03-07

Variant appearance in text: rs76353203
PubMed Link: 26947246
Variant Present in the following documents:
  • srep22851-s2.xls
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: R19X; rs76353203
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: R19X
PubMed Link: 26844526
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of coronary artery disease and myocardial infarction.

World Journal Of Cardiology
X Dai, S Wiernek, JP Evans, MS Runge
Publication Date: 2016-01-26

Variant appearance in text: APOC3: R19X
PubMed Link: 26839654
Variant Present in the following documents:
  • Main text
View BVdb publication page



D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile.

Nature Communications
S Valleix, G Verona, N Jourde-Chiche, B Nédelec, PP Mangione, F Bridoux, A Mangé, A Dogan, JM Goujon, M Lhomme, C Dauteuille, M Chabert, R Porcari, CA Waudby, A Relini, PJ Talmud, O Kovrov, G Olivecrona, M Stoppini, J Christodoulou, PN Hawkins, G Grateau, M Delpech, A Kontush, JD Gillmore, AD Kalopissis, V Bellotti
Publication Date: 2016-01-21

Variant appearance in text: APOC3: R19X
PubMed Link: 26790392
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: R19X
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: R19X
PubMed Link: 26516010
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).

Metabolism: Clinical And Experimental
MK Wojczynski, LD Parnell, TI Pollin, CQ Lai, MF Feitosa, JR O'Connell, AC Frazier-Wood, Q Gibson, S Aslibekyan, KA Ryan, MA Province, HK Tiwari, JM Ordovas, AR Shuldiner, DK Arnett, IB Borecki
Publication Date: 2015-10

Variant appearance in text: APOC3: R19X
PubMed Link: 26256467
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insights into blood lipids from rare variant discovery.

Current Opinion In Genetics & Development
EM Schmidt, CJ Willer
Publication Date: 2015-08

Variant appearance in text: APOC3: R19X; rs76353203
PubMed Link: 26241468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipoprotein associated phospholipase A2 activity, apolipoprotein C3 loss-of-function variants and cardiovascular disease: The Atherosclerosis Risk In Communities Study.

Atherosclerosis
Y Pokharel, W Sun, LM Polfus, AR Folsom, G Heiss, AR Sharrett, E Boerwinkle, CM Ballantyne, RC Hoogeveen
Publication Date: 2015-08

Variant appearance in text: rs76353203
PubMed Link: 26117401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personalized medicine in diabetes mellitus: current opportunities and future prospects.

Annals Of The New York Academy Of Sciences
JW Kleinberger, TI Pollin
Publication Date: 2015-06

Variant appearance in text: APOC3: R19X
PubMed Link: 25907167
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: R19X
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: R19X
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: R19X
PubMed Link: 25653838
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.

Human Molecular Genetics
W Lu, YC Cheng, K Chen, H Wang, GS Gerhard, CD Still, X Chu, R Yang, A Parihar, JR O'Connell, TI Pollin, E Angles-Cano, MJ Quon, BD Mitchell, AR Shuldiner, M Fu
Publication Date: 2015-04-15

Variant appearance in text: APOC3: R19X; rs76353203
PubMed Link: 25575512
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using genetically isolated populations to understand the genomic basis of disease.

Genome Medicine
E Zeggini
Publication Date: 2014

Variant appearance in text: APOC3: R19X
PubMed Link: 25473423
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single-cell transcriptomics: an emerging tool in the study of cardiometabolic disease.

Journal Of Translational Medicine
AV Khera, NN Mehta
Publication Date: 2014-11-06

Variant appearance in text: APOC3: R19X
PubMed Link: 25377125
Variant Present in the following documents:
  • Main text
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Monogenic causes of elevated HDL cholesterol and implications for development of new therapeutics.

Clinical Lipidology
DB Larach, M Cuchel, DJ Rader
Publication Date: 2013-12

Variant appearance in text: APOC3: R19X
PubMed Link: 25374625
Variant Present in the following documents:
  • Main text
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Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.

Circulation. Cardiovascular Genetics
DC Crawford, L Dumitrescu, R Goodloe, K Brown-Gentry, J Boston, B McClellan, C Sutcliffe, R Wiseman, P Baker, MA Pericak-Vance, WK Scott, M Allen, P Mayo, N Schnetz-Boutaud, HH Dilks, JL Haines, TI Pollin
Publication Date: 2014-12

Variant appearance in text: APOC3: R19X; rs76353203
PubMed Link: 25363704
Variant Present in the following documents:
  • Main text
  • NIHMS640711-supplement-000369_-_Supplemental_Material.pdf
  • NIHMS640711-supplement-Clinical_Perspective.docx
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A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Nature Communications
NJ Timpson, K Walter, JL Min, I Tachmazidou, G Malerba, SY Shin, L Chen, M Futema, L Southam, V Iotchkova, M Cocca, J Huang, Y Memari, S McCarthy, P Danecek, D Muddyman, M Mangino, C Menni, JR Perry, SM Ring, A Gaye, G Dedoussis, AE Farmaki, P Burton, PJ Talmud, G Gambaro, TD Spector, GD Smith, R Durbin, JB Richards, SE Humphries, E Zeggini, N Soranzo, ,
Publication Date: 2014-09-16

Variant appearance in text: APOC3: R19X
PubMed Link: 25225788
Variant Present in the following documents:
  • Main text
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APOC3, coronary disease, and complexities of Mendelian randomization.

Cell Metabolism
JC Cohen, S Stender, HH Hobbs
Publication Date: 2014-09-02

Variant appearance in text: APOC3: R19X
PubMed Link: 25185943
Variant Present in the following documents:
  • Main text
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Using population isolates in genetic association studies.

Briefings In Functional Genomics
K Hatzikotoulas, A Gilly, E Zeggini
Publication Date: 2014-09

Variant appearance in text: APOC3: R19X
PubMed Link: 25009120
Variant Present in the following documents:
  • Main text
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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: R19X; rs76353203
PubMed Link: 24941081
Variant Present in the following documents:
  • Main text
  • NIHMS619895-supplement-Supplement1.pdf
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Lack of association between apolipoprotein C3 gene polymorphisms and risk of nonalcoholic fatty liver disease in a Chinese Han population.

World Journal Of Gastroenterology
TH Niu, M Jiang, YN Xin, XJ Jiang, ZH Lin, SY Xuan
Publication Date: 2014-04-07

Variant appearance in text: APOC3: R19X
PubMed Link: 24707151
Variant Present in the following documents:
  • Main text
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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: rs76353203
PubMed Link: 24507774
Variant Present in the following documents:
  • Main text
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A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

Nature Communications
I Tachmazidou, G Dedoussis, L Southam, AE Farmaki, GR Ritchie, DK Xifara, A Matchan, K Hatzikotoulas, NW Rayner, Y Chen, TI Pollin, JR O'Connell, LM Yerges-Armstrong, C Kiagiadaki, K Panoutsopoulou, J Schwartzentruber, L Moutsianas, , E Tsafantakis, C Tyler-Smith, G McVean, Y Xue, E Zeggini
Publication Date: 2013

Variant appearance in text: APOC3: R19X; rs76353203
PubMed Link: 24343240
Variant Present in the following documents:
  • Main text
  • ncomms3872-s1.pdf
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Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation
JL Rodriguez-Flores, K Fakhro, NR Hackett, J Salit, J Fuller, F Agosto-Perez, M Gharbiah, JA Malek, M Zirie, A Jayyousi, R Badii, A Al-Nabet Al-Marri, L Chouchane, DJ Stadler, JG Mezey, RG Crystal
Publication Date: 2014-01

Variant appearance in text: APOC3: Arg19Ter; rs76353203
PubMed Link: 24123366
Variant Present in the following documents:
  • NIHMS533224-supplement-Supp_Fig_S1-S3_Table_S1_S3-S4.pdf
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In search of low-frequency and rare variants affecting complex traits.

Human Molecular Genetics
K Panoutsopoulou, I Tachmazidou, E Zeggini
Publication Date: 2013-10-15

Variant appearance in text: APOC3: R19X
PubMed Link: 23922232
Variant Present in the following documents:
  • Main text
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Assessing association between protein truncating variants and quantitative traits.

Bioinformatics (Oxford, England)
MA Rivas, M Pirinen, MJ Neville, KJ Gaulton, L Moutsianas, , CM Lindgren, F Karpe, MI McCarthy, P Donnelly
Publication Date: 2013-10-01

Variant appearance in text: APOC3: R19X
PubMed Link: 23860716
Variant Present in the following documents:
  • Main text
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A method to prioritize quantitative traits and individuals for sequencing in family-based studies.

Plos One
KP Shah, JA Douglas
Publication Date: 2013

Variant appearance in text: APOC3: R19X; rs76353203
PubMed Link: 23626830
Variant Present in the following documents:
  • Main text
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Triglycerides and heart disease: still a hypothesis?

Arteriosclerosis, Thrombosis, And Vascular Biology
IJ Goldberg, RH Eckel, R McPherson
Publication Date: 2011-08

Variant appearance in text: APOC3: R19X
PubMed Link: 21527746
Variant Present in the following documents:
  • Main text
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Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance.

Hepatology (Baltimore, Md.)
J Kozlitina, E Boerwinkle, JC Cohen, HH Hobbs
Publication Date: 2011-02

Variant appearance in text: APOC3: R19X
PubMed Link: 21274868
Variant Present in the following documents:
  • Main text
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Genetic determinants of plasma triglycerides.

Journal Of Lipid Research
CT Johansen, S Kathiresan, RA Hegele
Publication Date: 2011-02

Variant appearance in text: APOC3: R19X
PubMed Link: 21041806
Variant Present in the following documents:
  • Main text
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Functional analysis of the missense APOC3 mutation Ala23Thr associated with human hypotriglyceridemia.

Journal Of Lipid Research
M Sundaram, S Zhong, M Bou Khalil, H Zhou, ZG Jiang, Y Zhao, J Iqbal, MM Hussain, D Figeys, Y Wang, Z Yao
Publication Date: 2010-06

Variant appearance in text: APOC3: R19X
PubMed Link: 20097930
Variant Present in the following documents:
  • Main text
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A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

Science (New York, N.Y.)
TI Pollin, CM Damcott, H Shen, SH Ott, J Shelton, RB Horenstein, W Post, JC McLenithan, LF Bielak, PA Peyser, BD Mitchell, M Miller, JR O'Connell, AR Shuldiner
Publication Date: 2008-12-12

Variant appearance in text: APOC3: R19X
PubMed Link: 19074352
Variant Present in the following documents:
  • Main text
  • NIHMS83800-supplement-SOM.pdf
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227667.3 c.55C>T p.Arg19* stop_gained,splice_region_variant 2/4 -
ENST00000375345.1 c.109C>T p.Arg37* stop_gained,splice_region_variant 2/4 -
ENST00000433777.1 c.55C>T p.Arg19* stop_gained,splice_region_variant 2/3 -
ENST00000470144.1 n.87C>T - splice_region_variant,non_coding_transcript_exon_variant 2/4 -
NM_000040.3 c.55C>T p.Arg19* stop_gained,splice_region_variant 2/4 -