Variant ID: 19-8429323-G-A

NM_139314.1(ANGPTL4):c.118G>A;(p.Glu40Lys)

This variant was identified in 111 publications




Publications:


Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
JB Nielsen, O Rom, I Surakka, SE Graham, W Zhou, T Roychowdhury, LG Fritsche, SA Gagliano Taliun, C Sidore, Y Liu, ME Gabrielsen, AH Skogholt, B Wolford, W Overton, Y Zhao, J Chen, H Zhang, WE Hornsby, A Acheampong, A Grooms, A Schaefer, GJM Zajac, L Villacorta, J Zhang, B Brumpton, M Løset, V Rai, PR Lundegaard, MS Olesen, KD Taylor, ND Palmer, YD Chen, SH Choi, SA Lubitz, PT Ellinor, KC Barnes, M Daya, N Rafaels, ST Weiss, J Lasky-Su, RP Tracy, RS Vasan, LA Cupples, RA Mathias, LR Yanek, LC Becker, PA Peyser, LF Bielak, JA Smith, S Aslibekyan, BA Hidalgo, DK Arnett, MR Irvin, JG Wilson, SK Musani, A Correa, SS Rich, X Guo, JI Rotter, BA Konkle, JM Johnsen, AE Ashley-Koch, MJ Telen, VA Sheehan, J Blangero, JE Curran, JM Peralta, C Montgomery, WH Sheu, RH Chung, K Schwander, SM Nouraie, VR Gordeuk, Y Zhang, C Kooperberg, AP Reiner, RD Jackson, ER Bleecker, DA Meyers, X Li, S Das, K Yu, J LeFaive, A Smith, T Blackwell, D Taliun, S Zollner, L Forer, S Schoenherr, C Fuchsberger, A Pandit, M Zawistowski, S Kheterpal, CM Brummett, P Natarajan, D Schlessinger, S Lee, HM Kang, F Cucca, OL Holmen, BO Åsvold, M Boehnke, S Kathiresan, GR Abecasis, YE Chen, CJ Willer, K Hveem
Publication Date: 2020-12-18

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 33339817
Variant Present in the following documents:
  • Main text
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Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Plos One
J Hahn, YP Fu, MR Brown, JC Bis, PS de Vries, MF Feitosa, LR Yanek, S Weiss, F Giulianini, AV Smith, X Guo, TM Bartz, DM Becker, LC Becker, E Boerwinkle, JA Brody, YI Chen, OH Franco, M Grove, TB Harris, A Hofman, SJ Hwang, BG Kral, LJ Launer, MRP Markus, KM Rice, SS Rich, PM Ridker, F Rivadeneira, JI Rotter, N Sotoodehnia, KD Taylor, AG Uitterlinden, U Völker, H Völzke, J Yao, DI Chasman, M Dörr, V Gudnason, RA Mathias, W Post, BM Psaty, A Dehghan, CJ O'Donnell, AC Morrison
Publication Date: 2020

Variant appearance in text: rs116843064
PubMed Link: 33186364
Variant Present in the following documents:
  • Main text
View BVdb publication page



The support of genetic evidence for cardiovascular risk induced by antineoplastic drugs.

Science Advances
H Cui, S Zuo, Z Liu, H Liu, J Wang, T You, Z Zheng, Y Zhou, X Qian, H Yao, L Xie, T Liu, PC Sham, Y Yu, MJ Li
Publication Date: 2020-10

Variant appearance in text: rs116843064
PubMed Link: 33055159
Variant Present in the following documents:
  • Main text
View BVdb publication page



Angiopoietin-Like Protein 4 Overexpression in Visceral Adipose Tissue from Obese Subjects with Impaired Glucose Metabolism and Relationship with Lipoprotein Lipase.

International Journal Of Molecular Sciences
I Barchetta, C Chiappetta, V Ceccarelli, FA Cimini, L Bertoccini, M Gaggini, CD Cristofano, G Silecchia, A Lenzi, F Leonetti, MG Baroni, A Gastaldelli, MG Cavallo
Publication Date: 2020-09-29

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 33003532
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fasting induces ANGPTL4 and reduces LPL activity in human adipose tissue.

Molecular Metabolism
PMM Ruppert, CCJR Michielsen, EJ Hazebroek, A Pirayesh, G Olivecrona, LA Afman, S Kersten
Publication Date: 2020-10

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 32504883
Variant Present in the following documents:
  • Main text
View BVdb publication page



Angiopoietin-like protein 8 differentially regulates ANGPTL3 and ANGPTL4 during postprandial partitioning of fatty acids.

Journal Of Lipid Research
YQ Chen, TG Pottanat, RW Siegel, M Ehsani, YW Qian, EY Zhen, A Regmi, WC Roell, H Guo, MJ Luo, RE Gimeno, F Van't Hooft, RJ Konrad
Publication Date: 2020-08

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 32487544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pleiotropy-Based Decomposition of Genetic Risk Scores: Association and Interaction Analysis for Type 2 Diabetes and CAD.

American Journal Of Human Genetics
DI Chasman, F Giulianini, OV Demler, MS Udler
Publication Date: 2020-05-07

Variant appearance in text: rs116843064
PubMed Link: 32302534
Variant Present in the following documents:
  • Main text
View BVdb publication page



A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

Plos Genetics
CA Emdin, ME Haas, AV Khera, K Aragam, M Chaffin, D Klarin, G Hindy, L Jiang, WQ Wei, Q Feng, J Karjalainen, A Havulinna, T Kiiskinen, A Bick, D Ardissino, JG Wilson, H Schunkert, R McPherson, H Watkins, R Elosua, MJ Bown, NJ Samani, U Baber, J Erdmann, N Gupta, J Danesh, D Saleheen, KM Chang, M Vujkovic, B Voight, S Damrauer, J Lynch, D Kaplan, M Serper, P Tsao, , J Mercader, C Hanis, M Daly, J Denny, S Gabriel, S Kathiresan
Publication Date: 2020-04

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 32282858
Variant Present in the following documents:
  • Main text
View BVdb publication page



Angiopoietin-like 4 deficiency upregulates macrophage function through the dysregulation of cell-intrinsic fatty acid metabolism.

American Journal Of Cancer Research
S Ding, D Wu, Q Lu, L Qian, Y Ding, G Liu, X Jia, Y Zhang, W Xiao, W Gong
Publication Date: 2020

Variant appearance in text: rs116843064
PubMed Link: 32195030
Variant Present in the following documents:
  • Main text
View BVdb publication page



Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses.

Korean Circulation Journal
W Spiller, KJ Jung, JY Lee, SH Jee
Publication Date: 2020-02

Variant appearance in text: rs116843064
PubMed Link: 31845553
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of mountain ultra-marathon running on plasma angiopoietin-like protein 4 and lipid profile in healthy trained men.

European Journal Of Applied Physiology
M Górecka, K Krzemiński, M Buraczewska, A Kozacz, J Dąbrowski, AW Ziemba
Publication Date: 2020-01

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 31707478
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications
R Tabassum, JT Rämö, P Ripatti, JT Koskela, M Kurki, J Karjalainen, P Palta, S Hassan, J Nunez-Fontarnau, TTJ Kiiskinen, S Söderlund, N Matikainen, MJ Gerl, MA Surma, C Klose, NO Stitziel, H Laivuori, AS Havulinna, SK Service, V Salomaa, M Pirinen, , M Jauhiainen, MJ Daly, NB Freimer, A Palotie, MR Taskinen, K Simons, S Ripatti
Publication Date: 2019-09-24

Variant appearance in text: rs116843064
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
K Kuchenbaecker, N Telkar, T Reiker, RG Walters, K Lin, A Eriksson, D Gurdasani, A Gilly, L Southam, E Tsafantakis, M Karaleftheri, J Seeley, A Kamali, G Asiki, IY Millwood, M Holmes, H Du, Y Guo, M Kumari, G Dedoussis, L Li, Z Chen, MS Sandhu, E Zeggini,
Publication Date: 2019-09-24

Variant appearance in text: rs116843064
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
  • 41467_2019_12026_MOESM2_ESM.pdf
View BVdb publication page



Angiopoietin-like 4 binds neuropilins and cooperates with VEGF to induce diabetic macular edema.

The Journal Of Clinical Investigation
A Sodhi, T Ma, D Menon, M Deshpande, K Jee, A Dinabandhu, J Vancel, D Lu, S Montaner
Publication Date: 2019-11-01

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 31545295
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs116843064
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Comparison of haplotype-based tests for detecting gene-environment interactions with rare variants.

Briefings In Bioinformatics
C Papachristou, S Biswas
Publication Date: 2020-05-21

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 31329820
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative analysis of vascular endothelial cell genomic features identifies AIDA as a coronary artery disease candidate gene.

Genome Biology
S Lalonde, VA Codina-Fauteux, SM de Bellefon, F Leblanc, M Beaudoin, MM Simon, R Dali, T Kwan, KS Lo, T Pastinen, G Lettre
Publication Date: 2019-07-08

Variant appearance in text: rs116843064
PubMed Link: 31287004
Variant Present in the following documents:
  • 13059_2019_1749_MOESM11_ESM.xlsx
View BVdb publication page



GPIHBP1 and Lipoprotein Lipase, Partners in Plasma Triglyceride Metabolism.

Cell Metabolism
SG Young, LG Fong, AP Beigneux, CM Allan, C He, H Jiang, K Nakajima, M Meiyappan, G Birrane, M Ploug
Publication Date: 2019-07-02

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 31269429
Variant Present in the following documents:
  • Main text
View BVdb publication page



ANGPTL4 in Metabolic and Cardiovascular Disease.

Trends In Molecular Medicine
B Aryal, NL Price, Y Suarez, C Fernández-Hernando
Publication Date: 2019-08

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 31235370
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of a genetic variant in the angiopoietin-like protein 4 gene with metabolic syndrome.

Bmc Medical Genetics
S Kharazmi-Khorassani, J Kharazmi-Khorassani, A Rastegar-Moghadam, S Samadi, H Ghazizadeh, M Tayefi, GA Ferns, M Ghayour-Mobarhan, A Avan, H Esmaily
Publication Date: 2019-06-04

Variant appearance in text: ANGPTL4: E40K; rs116843064
PubMed Link: 31164103
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using a genetic risk score to calculate the optimal age for an individual to undergo coronary artery calcium screening.

Journal Of Cardiovascular Computed Tomography
LM Severance, FJ Contijoch, H Carter, CC Fan, TM Seibert, AM Dale, ER McVeigh
Publication Date: 2019

Variant appearance in text: rs116843064
PubMed Link: 31104941
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.

Frontiers In Cell And Developmental Biology
T Dharmaraj, Y Guan, J Liu, C Badens, B Gaborit, KL Wilson
Publication Date: 2019

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 31024910
Variant Present in the following documents:
  • Main text
View BVdb publication page



A 3-SNP gene risk score and a metabolic risk score both predict hypertriglyceridemia and cardiovascular disease risk.

Journal Of Clinical Lipidology
R Verbeek, F Oldoni, RP Surendran, AH Zwinderman, KT Khaw, ESG Stroes, NJ Wareham, SM Boekholdt, GM Dallinga-Thie
Publication Date: 2019

Variant appearance in text: rs116843064
PubMed Link: 30910668
Variant Present in the following documents:
  • Main text
View BVdb publication page



ANGPTL4 gene E40K variation protects against obesity-associated dyslipidemia in participants with obesity.

Obesity Science & Practice
D Bailetti, L Bertoccini, RM Mancina, I Barchetta, D Capoccia, E Cossu, A Pujia, A Lenzi, F Leonetti, MG Cavallo, S Romeo, MG Baroni
Publication Date: 2019-02

Variant appearance in text: ANGPTL4: E40K; rs116843064
PubMed Link: 30820332
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Nature Genetics
AE Justice, T Karaderi, HM Highland, KL Young, M Graff, Y Lu, V Turcot, PL Auer, RS Fine, X Guo, C Schurmann, A Lempradl, E Marouli, A Mahajan, TW Winkler, AE Locke, C Medina-Gomez, T Esko, S Vedantam, A Giri, KS Lo, T Alfred, P Mudgal, MCY Ng, NL Heard-Costa, MF Feitosa, AK Manning, SM Willems, S Sivapalaratnam, G Abecasis, DS Alam, M Allison, P Amouyel, Z Arzumanyan, B Balkau, L Bastarache, S Bergmann, LF Bielak, M Blüher, M Boehnke, H Boeing, E Boerwinkle, CA Böger, J Bork-Jensen, EP Bottinger, DW Bowden, I Brandslund, L Broer, AA Burt, AS Butterworth, MJ Caulfield, G Cesana, JC Chambers, DI Chasman, YI Chen, R Chowdhury, C Christensen, AY Chu, FS Collins, JP Cook, AJ Cox, DS Crosslin, J Danesh, PIW de Bakker, S Denus, R Mutsert, G Dedoussis, EW Demerath, JG Dennis, JC Denny, E Di Angelantonio, M Dörr, F Drenos, MP Dubé, AM Dunning, DF Easton, P Elliott, E Evangelou, AE Farmaki, S Feng, E Ferrannini, J Ferrieres, JC Florez, M Fornage, CS Fox, PW Franks, N Friedrich, W Gan, I Gandin, P Gasparini, V Giedraitis, G Girotto, M Gorski, H Grallert, N Grarup, ML Grove, S Gustafsson, J Haessler, T Hansen, AT Hattersley, C Hayward, IM Heid, OL Holmen, GK Hovingh, JMM Howson, Y Hu, YJ Hung, K Hveem, MA Ikram, E Ingelsson, AU Jackson, GP Jarvik, Y Jia, T Jørgensen, P Jousilahti, JM Justesen, B Kahali, M Karaleftheri, SLR Kardia, F Karpe, F Kee, H Kitajima, P Komulainen, JS Kooner, P Kovacs, BK Krämer, K Kuulasmaa, J Kuusisto, M Laakso, TA Lakka, D Lamparter, LA Lange, C Langenberg, EB Larson, NR Lee, WJ Lee, T Lehtimäki, CE Lewis, H Li, J Li, R Li-Gao, LA Lin, X Lin, L Lind, J Lindström, A Linneberg, CT Liu, DJ Liu, J Luan, LP Lyytikäinen, S MacGregor, R Mägi, S Männistö, G Marenne, J Marten, NGD Masca, MI McCarthy, K Meidtner, E Mihailov, L Moilanen, M Moitry, DO Mook-Kanamori, A Morgan, AP Morris, M Müller-Nurasyid, PB Munroe, N Narisu, CP Nelson, M Neville, I Ntalla, JR O'Connell, KR Owen, O Pedersen, GM Peloso, CE Pennell, M Perola, JA Perry, JRB Perry, TH Pers, A Ewing, O Polasek, OT Raitakari, A Rasheed, CK Raulerson, R Rauramaa, DF Reilly, AP Reiner, PM Ridker, MA Rivas, NR Robertson, A Robino, I Rudan, KS Ruth, D Saleheen, V Salomaa, NJ Samani, PJ Schreiner, MB Schulze, RA Scott, M Segura-Lepe, X Sim, AJ Slater, KS Small, BH Smith, JA Smith, L Southam, TD Spector, EK Speliotes, K Stefansson, V Steinthorsdottir, KE Stirrups, K Strauch, HM Stringham, M Stumvoll, L Sun, P Surendran, KMA Swart, JC Tardif, KD Taylor, A Teumer, DJ Thompson, G Thorleifsson, U Thorsteinsdottir, BH Thuesen, A Tönjes, M Torres, E Tsafantakis, J Tuomilehto, AG Uitterlinden, M Uusitupa, CM van Duijn, M Vanhala, R Varma, SH Vermeulen, H Vestergaard, V Vitart, TF Vogt, D Vuckovic, LE Wagenknecht, M Walker, L Wallentin, F Wang, CA Wang, S Wang, NJ Wareham, HR Warren, DM Waterworth, J Wessel, HD White, CJ Willer, JG Wilson, AR Wood, Y Wu, H Yaghootkar, J Yao, LM Yerges-Armstrong, R Young, E Zeggini, X Zhan, W Zhang, JH Zhao, W Zhao, H Zheng, W Zhou, MC Zillikens, F Rivadeneira, IB Borecki, JA Pospisilik, P Deloukas, TM Frayling, G Lettre, KL Mohlke, JI Rotter, Z Kutalik, JN Hirschhorn, LA Cupples, RJF Loos, KE North, CM Lindgren, , , , , , , , , ,
Publication Date: 2019-03

Variant appearance in text: ANGPTL4: E40K; rs116843064
PubMed Link: 30778226
Variant Present in the following documents:
  • Main text
  • nihms-1016010.pdf
  • NIHMS1016010-supplement-SupplementaryData12.xlsx
  • NIHMS1016010-supplement-SupplementaryData14.xlsx
  • NIHMS1016010-supplement-SupplementaryData16.xlsx
  • NIHMS1016010-supplement-SupplementaryData17.xlsx
  • NIHMS1016010-supplement-SupplementaryData4.xlsx
  • NIHMS1016010-supplement-SupplementaryData5.xlsx
  • NIHMS1016010-supplement-SupplementaryData6.xlsx
  • NIHMS1016010-supplement-Supplementaryfig.pdf
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: rs116843064
PubMed Link: 30694319
Variant Present in the following documents:
  • Main text
  • jama-321-364-s001.pdf
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: rs116843064
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



Increased Level of Angiopoietin Like Proteins 4 and 8 in People With Sleep Apnea.

Frontiers In Endocrinology
A Al-Terki, M Abu-Farha, I AlKhairi, PT Cherian, D Sriraman, A Shyamsundar, S Ali, F Almulla, J Tuomilehto, JA Abubaker
Publication Date: 2018

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 30524367
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Nature Communications
E Ferkingstad, A Oddsson, S Gretarsdottir, S Benonisdottir, G Thorleifsson, AM Deaton, S Jonsson, OA Stefansson, GL Norddahl, F Zink, GA Arnadottir, B Gunnarsson, GH Halldorsson, A Helgadottir, BO Jensson, RP Kristjansson, G Sveinbjornsson, DA Sverrisson, G Masson, I Olafsson, GI Eyjolfsson, O Sigurdardottir, H Holm, I Jonsdottir, S Olafsson, T Steingrimsdottir, T Rafnar, ES Bjornsson, U Thorsteinsdottir, DF Gudbjartsson, P Sulem, K Stefansson
Publication Date: 2018-11-30

Variant appearance in text: rs116843064
PubMed Link: 30504769
Variant Present in the following documents:
  • 41467_2018_7460_MOESM12_ESM.xlsx
View BVdb publication page



Triglyceride-Rich Lipoproteins and Novel Targets for Anti-atherosclerotic Therapy.

Korean Circulation Journal
Ž Reiner
Publication Date: 2018-12

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 30403015
Variant Present in the following documents:
  • Main text
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: ANGPTL4: Glu40Lys
PubMed Link: 30326043
Variant Present in the following documents:
  • Main text
View BVdb publication page



ANGPTL4 variants and their haplotypes are associated with serum lipid levels, the risk of coronary artery disease and ischemic stroke and atorvastatin cholesterol-lowering responses.

Nutrition & Metabolism
Q Yang, RX Yin, XL Cao, F Huang, YJ Zhou, WX Chen
Publication Date: 2018

Variant appearance in text: ANGPTL4: E40K; rs116843064
PubMed Link: 30323852
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Forgotten Lipids: Triglycerides, Remnant Cholesterol, and Atherosclerotic Cardiovascular Disease Risk.

Endocrine Reviews
PB Sandesara, SS Virani, S Fazio, MD Shapiro
Publication Date: 2019-04-01

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 30312399
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

Nature Genetics
D Klarin, SM Damrauer, K Cho, YV Sun, TM Teslovich, J Honerlaw, DR Gagnon, SL DuVall, J Li, GM Peloso, M Chaffin, AM Small, J Huang, H Tang, JA Lynch, YL Ho, DJ Liu, CA Emdin, AH Li, JE Huffman, JS Lee, P Natarajan, R Chowdhury, D Saleheen, M Vujkovic, A Baras, S Pyarajan, E Di Angelantonio, BM Neale, A Naheed, AV Khera, J Danesh, KM Chang, G Abecasis, C Willer, FE Dewey, DJ Carey, , , , , J Concato, JM Gaziano, CJ O'Donnell, PS Tsao, S Kathiresan, DJ Rader, PWF Wilson, TL Assimes
Publication Date: 2018-11

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 30275531
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus.

Scientific Reports
M Munz, GM Richter, BG Loos, S Jepsen, K Divaris, S Offenbacher, A Teumer, B Holtfreter, T Kocher, C Bruckmann, Y Jockel-Schneider, C Graetz, L Munoz, A Bhandari, S Tennstedt, I Staufenbiel, N van der Velde, AG Uitterlinden, LCPGM de Groot, J Wellmann, K Berger, B Krone, P Hoffmann, M Laudes, W Lieb, A Franke, H Dommisch, J Erdmann, AS Schaefer
Publication Date: 2018-09-12

Variant appearance in text: rs116843064
PubMed Link: 30209331
Variant Present in the following documents:
  • 41598_2018_31980_MOESM2_ESM.xlsx
View BVdb publication page



Enzyme-modified non-oxidized LDL (ELDL) induces human coronary artery smooth muscle cell transformation to a migratory and osteoblast-like phenotype.

Scientific Reports
B Chellan, E Rojas, C Zhang, MA Hofmann Bowman
Publication Date: 2018-08-10

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 30097618
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of the multifunctionality of angiopoietin-like 4 in eye disease.

Bioscience Reports
X Yang, Y Cheng, G Su
Publication Date: 2018-10-31

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 30049845
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Nature Communications
SM Zekavat, S Ruotsalainen, RE Handsaker, M Alver, J Bloom, T Poterba, C Seed, J Ernst, M Chaffin, J Engreitz, GM Peloso, A Manichaikul, C Yang, KA Ryan, M Fu, WC Johnson, M Tsai, M Budoff, RS Vasan, LA Cupples, JI Rotter, SS Rich, W Post, BD Mitchell, A Correa, A Metspalu, JG Wilson, V Salomaa, M Kellis, MJ Daly, BM Neale, S McCarroll, I Surakka, T Esko, A Ganna, S Ripatti, S Kathiresan, P Natarajan,
Publication Date: 2018-07-04

Variant appearance in text: rs116843064
PubMed Link: 29973585
Variant Present in the following documents:
  • 41467_2018_4668_MOESM10_ESM.xlsx
  • 41467_2018_4668_MOESM11_ESM.xlsx
  • 41467_2018_4668_MOESM12_ESM.xlsx
  • 41467_2018_4668_MOESM13_ESM.xlsx
  • 41467_2018_4668_MOESM14_ESM.xlsx
  • 41467_2018_4668_MOESM15_ESM.xlsx
  • 41467_2018_4668_MOESM16_ESM.xlsx
  • 41467_2018_4668_MOESM18_ESM.xlsx
  • 41467_2018_4668_MOESM9_ESM.xlsx
View BVdb publication page



Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Nature Communications
V Gusarova, C O'Dushlaine, TM Teslovich, PN Benotti, T Mirshahi, O Gottesman, CV Van Hout, MF Murray, A Mahajan, JB Nielsen, L Fritsche, AB Wulff, DF Gudbjartsson, M Sjögren, CA Emdin, RA Scott, WJ Lee, A Small, LC Kwee, OP Dwivedi, RB Prasad, S Bruse, AE Lopez, J Penn, A Marcketta, JB Leader, CD Still, HL Kirchner, UL Mirshahi, AH Wardeh, CM Hartle, L Habegger, SN Fetterolf, T Tusie-Luna, AP Morris, H Holm, V Steinthorsdottir, P Sulem, U Thorsteinsdottir, JI Rotter, LM Chuang, S Damrauer, D Birtwell, CM Brummett, AV Khera, P Natarajan, M Orho-Melander, J Flannick, LA Lotta, CJ Willer, OL Holmen, MD Ritchie, DH Ledbetter, AJ Murphy, IB Borecki, JG Reid, JD Overton, O Hansson, L Groop, SH Shah, WE Kraus, DJ Rader, YI Chen, K Hveem, NJ Wareham, S Kathiresan, O Melander, K Stefansson, BG Nordestgaard, A Tybjærg-Hansen, GR Abecasis, D Altshuler, JC Florez, M Boehnke, MI McCarthy, GD Yancopoulos, DJ Carey, AR Shuldiner, A Baras, FE Dewey, J Gromada
Publication Date: 2018-06-13

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 29899519
Variant Present in the following documents:
  • 41467_2018_4611_MOESM1_ESM.pdf
  • 41467_2018_4611_MOESM2_ESM.pdf
  • 41467_2018_4611_MOESM3_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Can targeting ANGPTL proteins improve glucose tolerance?

Diabetologia
BSJ Davies
Publication Date: 2018-06

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 29619530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Absence of ANGPTL4 in adipose tissue improves glucose tolerance and attenuates atherogenesis.

Jci Insight
B Aryal, AK Singh, X Zhang, L Varela, N Rotllan, L Goedeke, B Chaube, JP Camporez, DF Vatner, TL Horvath, GI Shulman, Y Suárez, C Fernández-Hernando
Publication Date: 2018-03-22

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 29563332
Variant Present in the following documents:
  • Main text
View BVdb publication page



Electronic health records: the next wave of complex disease genetics.

Human Molecular Genetics
BN Wolford, CJ Willer, I Surakka
Publication Date: 2018-05-01

Variant appearance in text: rs116843064
PubMed Link: 29547983
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis yields new loci associating with aortic valve stenosis.

Nature Communications
A Helgadottir, G Thorleifsson, S Gretarsdottir, OA Stefansson, V Tragante, RB Thorolfsdottir, I Jonsdottir, T Bjornsson, V Steinthorsdottir, N Verweij, JB Nielsen, W Zhou, L Folkersen, A Martinsson, M Heydarpour, S Prakash, G Oskarsson, T Gudbjartsson, A Geirsson, I Olafsson, EL Sigurdsson, P Almgren, O Melander, A Franco-Cereceda, A Hamsten, L Fritsche, M Lin, B Yang, W Hornsby, D Guo, CM Brummett, G Abecasis, M Mathis, D Milewicz, SC Body, P Eriksson, CJ Willer, K Hveem, C Newton-Cheh, JG Smith, R Danielsen, G Thorgeirsson, U Thorsteinsdottir, DF Gudbjartsson, H Holm, K Stefansson
Publication Date: 2018-03-07

Variant appearance in text: ANGPTL4: Glu40Lys; rs116843064
PubMed Link: 29511194
Variant Present in the following documents:
  • 41467_2018_3252_MOESM7_ESM.xlsx
  • 41467_2018_3252_MOESM8_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Increased plasma and adipose tissue levels of ANGPTL8/Betatrophin and ANGPTL4 in people with hypertension.

Lipids In Health And Disease
M Abu-Farha, P Cherian, MG Qaddoumi, I AlKhairi, D Sriraman, M Alanbaei, J Abubaker
Publication Date: 2018-03-01

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 29490644
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Influence of Big (Clinical) Data and Genomics on Precision Medicine and Drug Development.

Clinical Pharmacology And Therapeutics
JC Denny, SL Van Driest, WQ Wei, DM Roden
Publication Date: 2018-03

Variant appearance in text: ANGPTL4: E40K; rs116843064
PubMed Link: 29171014
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics
JP Davis, JR Huyghe, AE Locke, AU Jackson, X Sim, HM Stringham, TM Teslovich, RP Welch, C Fuchsberger, N Narisu, PS Chines, AJ Kangas, P Soininen, M Ala-Korpela, J Kuusisto, FS Collins, M Laakso, M Boehnke, KL Mohlke
Publication Date: 2017-10

Variant appearance in text: rs116843064
PubMed Link: 29084231
Variant Present in the following documents:
  • Main text
  • pgen.1007079.s007.pdf
  • pgen.1007079.s010.xlsx
  • pgen.1007079.s011.xlsx
View BVdb publication page



Exome-wide association study of plasma lipids in >300,000 individuals.

Nature Genetics
DJ Liu, GM Peloso, H Yu, AS Butterworth, X Wang, A Mahajan, D Saleheen, C Emdin, D Alam, AC Alves, P Amouyel, E Di Angelantonio, D Arveiler, TL Assimes, PL Auer, U Baber, CM Ballantyne, LE Bang, M Benn, JC Bis, M Boehnke, E Boerwinkle, J Bork-Jensen, EP Bottinger, I Brandslund, M Brown, F Busonero, MJ Caulfield, JC Chambers, DI Chasman, YE Chen, YI Chen, R Chowdhury, C Christensen, AY Chu, JM Connell, F Cucca, LA Cupples, SM Damrauer, G Davies, IJ Deary, G Dedoussis, JC Denny, A Dominiczak, MP Dubé, T Ebeling, G Eiriksdottir, T Esko, AE Farmaki, MF Feitosa, M Ferrario, J Ferrieres, I Ford, M Fornage, PW Franks, TM Frayling, R Frikke-Schmidt, LG Fritsche, P Frossard, V Fuster, SK Ganesh, W Gao, ME Garcia, C Gieger, F Giulianini, MO Goodarzi, H Grallert, N Grarup, L Groop, ML Grove, V Gudnason, T Hansen, TB Harris, C Hayward, JN Hirschhorn, OL Holmen, J Huffman, Y Huo, K Hveem, S Jabeen, AU Jackson, J Jakobsdottir, MR Jarvelin, GB Jensen, ME Jørgensen, JW Jukema, JM Justesen, PR Kamstrup, S Kanoni, F Karpe, F Kee, AV Khera, D Klarin, HA Koistinen, JS Kooner, C Kooperberg, K Kuulasmaa, J Kuusisto, M Laakso, T Lakka, C Langenberg, A Langsted, LJ Launer, T Lauritzen, DCM Liewald, LA Lin, A Linneberg, RJF Loos, Y Lu, X Lu, R Mägi, A Malarstig, A Manichaikul, AK Manning, P Mäntyselkä, E Marouli, NGD Masca, A Maschio, JB Meigs, O Melander, A Metspalu, AP Morris, AC Morrison, A Mulas, M Müller-Nurasyid, PB Munroe, MJ Neville, JB Nielsen, SF Nielsen, BG Nordestgaard, JM Ordovas, R Mehran, CJ O'Donnell, M Orho-Melander, CM Molony, P Muntendam, S Padmanabhan, CNA Palmer, D Pasko, AP Patel, O Pedersen, M Perola, A Peters, C Pisinger, G Pistis, O Polasek, N Poulter, BM Psaty, DJ Rader, A Rasheed, R Rauramaa, DF Reilly, AP Reiner, F Renström, SS Rich, PM Ridker, JD Rioux, NR Robertson, DM Roden, JI Rotter, I Rudan, V Salomaa, NJ Samani, S Sanna, N Sattar, EM Schmidt, RA Scott, P Sever, RS Sevilla, CM Shaffer, X Sim, S Sivapalaratnam, KS Small, AV Smith, BH Smith, S Somayajula, L Southam, TD Spector, EK Speliotes, JM Starr, KE Stirrups, N Stitziel, K Strauch, HM Stringham, P Surendran, H Tada, AR Tall, H Tang, JC Tardif, KD Taylor, S Trompet, PS Tsao, J Tuomilehto, A Tybjaerg-Hansen, NR van Zuydam, A Varbo, TV Varga, J Virtamo, M Waldenberger, N Wang, NJ Wareham, HR Warren, PE Weeke, J Weinstock, J Wessel, JG Wilson, PWF Wilson, M Xu, H Yaghootkar, R Young, E Zeggini, H Zhang, NS Zheng, W Zhang, Y Zhang, W Zhou, Y Zhou, M Zoledziewska, , , , , , JMM Howson, J Danesh, MI McCarthy, CA Cowan, G Abecasis, P Deloukas, K Musunuru, CJ Willer, S Kathiresan
Publication Date: 2017-12

Variant appearance in text: ANGPTL4: Glu40Lys; rs116843064
PubMed Link: 29083408
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: rs116843064
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Chiglitazar Preferentially Regulates Gene Expression via Configuration-Restricted Binding and Phosphorylation Inhibition of PPARγ.

Ppar Research
DS Pan, W Wang, NS Liu, QJ Yang, K Zhang, JZ Zhu, S Shan, ZB Li, ZQ Ning, L Huang, XP Lu
Publication Date: 2017

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 29056962
Variant Present in the following documents:
  • Main text
View BVdb publication page



The C-terminal fibrinogen-like domain of angiopoietin-like 4 stimulates adipose tissue lipolysis and promotes energy expenditure.

The Journal Of Biological Chemistry
AE McQueen, D Kanamaluru, K Yan, NE Gray, L Wu, ML Li, A Chang, A Hasan, D Stifler, SK Koliwad, JC Wang
Publication Date: 2017-09-29

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 28842503
Variant Present in the following documents:
  • Main text
View BVdb publication page



Angiopoietin-Like Protein 4 Is a High-Density Lipoprotein (HDL) Component for HDL Metabolism and Function in Nondiabetic Participants and Type-2 Diabetic Patients.

Journal Of The American Heart Association
LY Yang, CG Yu, XH Wang, SS Yuan, LJ Zhang, JN Lang, D Zhao, YM Feng
Publication Date: 2017-06-23

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 28645936
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
CS Paththinige, ND Sirisena, V Dissanayake
Publication Date: 2017-06-02

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Triglycerides and the Risk of Atherosclerosis.

Current Atherosclerosis Reports
JS Dron, RA Hegele
Publication Date: 2017-07

Variant appearance in text: ANGPTL4: E40K; rs116843064
PubMed Link: 28534127
Variant Present in the following documents:
  • Main text
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: rs116843064
PubMed Link: 28449691
Variant Present in the following documents:
  • 13059_2017_1212_MOESM1_ESM.xlsx
View BVdb publication page



Genetics of Lipid and Lipoprotein Disorders and Traits.

Current Genetic Medicine Reports
JS Dron, RA Hegele
Publication Date: 2016

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 28286704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine
R Nagy, TS Boutin, J Marten, JE Huffman, SM Kerr, A Campbell, L Evenden, J Gibson, C Amador, DM Howard, P Navarro, A Morris, IJ Deary, LJ Hocking, S Padmanabhan, BH Smith, P Joshi, JF Wilson, ND Hastie, AF Wright, AM McIntosh, DJ Porteous, CS Haley, V Vitart, C Hayward
Publication Date: 2017-03-07

Variant appearance in text: rs116843064
PubMed Link: 28270201
Variant Present in the following documents:
  • 13073_2017_414_MOESM9_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Atherosclerosis in 2016: Advances in new therapeutic targets for atherosclerosis.

Nature Reviews. Cardiology
WH Tang, SL Hazen
Publication Date: 2017-01-17

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 28094270
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human genetic insights into lipoproteins and risk of cardiometabolic disease.

Current Opinion In Lipidology
NO Stitziel
Publication Date: 2017-04

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 28059951
Variant Present in the following documents:
  • Main text
View BVdb publication page



The angiopoietin-like protein ANGPTL4 catalyzes unfolding of the hydrolase domain in lipoprotein lipase and the endothelial membrane protein GPIHBP1 counteracts this unfolding.

Elife
S Mysling, KK Kristensen, M Larsson, O Kovrov, A Bensadouen, TJ Jørgensen, G Olivecrona, SG Young, M Ploug
Publication Date: 2016-12-08

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 27929370
Variant Present in the following documents:
  • Main text
View BVdb publication page



Triglyceride Treatment in the Age of Cholesterol Reduction.

Progress In Cardiovascular Diseases
N Agrawal, P Freitas Corradi, N Gumaste, IJ Goldberg
Publication Date: 2016

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 27544319
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: rs116843064
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
View BVdb publication page



ANGPTL4 deficiency in haematopoietic cells promotes monocyte expansion and atherosclerosis progression.

Nature Communications
B Aryal, N Rotllan, E Araldi, CM Ramírez, S He, BG Chousterman, AM Fenn, A Wanschel, J Madrigal-Matute, N Warrier, JL Martín-Ventura, FK Swirski, Y Suárez, C Fernández-Hernando
Publication Date: 2016-07-27

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 27460411
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multidimensional regulation of lipoprotein lipase: impact on biochemical and cardiovascular phenotypes.

Journal Of Lipid Research
RA Hegele
Publication Date: 2016-09

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 27412676
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Contribution of GWAS Loci in Familial Dyslipidemias.

Plos Genetics
P Ripatti, JT Rämö, S Söderlund, I Surakka, N Matikainen, M Pirinen, P Pajukanta, AP Sarin, SK Service, PP Laurila, C Ehnholm, V Salomaa, RK Wilson, A Palotie, NB Freimer, MR Taskinen, S Ripatti
Publication Date: 2016-05

Variant appearance in text: rs116843064
PubMed Link: 27227539
Variant Present in the following documents:
  • pgen.1006078.s008.pdf
  • pgen.1006078.s009.pdf
View BVdb publication page



The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
T Kessler, B Vilne, H Schunkert
Publication Date: 2016-07

Variant appearance in text: rs116843064
PubMed Link: 27189168
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3.

Molecular Genetics And Metabolism
RL Hanson, F Leti, D Tsinajinnie, S Kobes, S Puppala, JE Curran, L Almasy, DM Lehman, J Blangero, R Duggirala, JK DiStefano
Publication Date: 2016-06

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 27117576
Variant Present in the following documents:
  • Main text
View BVdb publication page



The ANGPTL3-4-8 model, a molecular mechanism for triglyceride trafficking.

Open Biology
R Zhang
Publication Date: 2016-04

Variant appearance in text: ANGPTL4: E40K
PubMed Link: 27053679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000301455.2 c.118G>A p.Glu40Lys missense_variant 1/7 -
ENST00000393962.2 c.118G>A p.Glu40Lys missense_variant 1/6 -
ENST00000541807.1 c.-314G>A - 5_prime_UTR_variant 1/8 -
ENST00000593998.1 c.118G>A p.Glu40Lys missense_variant,NMD_transcript_variant 1/8 -
ENST00000594348.1 n.271G>A - non_coding_transcript_exon_variant 1/5 -
ENST00000594875.1 c.43G>A p.Glu15Lys missense_variant 1/3 -
ENST00000595079.1 c.118G>A p.Glu40Lys missense_variant,NMD_transcript_variant 1/8 -
ENST00000597137.1 n.64+1077G>A - intron_variant,non_coding_transcript_variant - 1/4
ENST00000598255.1 n.274G>A - non_coding_transcript_exon_variant 1/4 -
ENST00000599192.1 c.118G>A p.Glu40Lys missense_variant 3/3 -
ENST00000601770.1 c.118G>A p.Glu40Lys missense_variant 2/2 -
ENST00000601886.1 c.118G>A p.Glu40Lys missense_variant 3/3 -
NM_001039667.3 c.118G>A p.Glu40Lys missense_variant 1/6 -
NM_139314.3 c.118G>A p.Glu40Lys missense_variant 1/7 -
NR_104213.2 n.285G>A - non_coding_transcript_exon_variant 1/3 -