Publications:

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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

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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

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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

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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

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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

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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

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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

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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

View BVdb publication page

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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	-