Publications:

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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

View BVdb publication page

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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: rs116843064

PubMed Link: 30694319

Variant Present in the following documents:

• Main text
• jama-321-364-s001.pdf

View BVdb publication page

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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: rs116843064

PubMed Link: 29083407

Variant Present in the following documents:

• NIHMS909133-supplement-2.xlsx

View BVdb publication page

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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

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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

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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

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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

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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

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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: rs116843064

PubMed Link: 28449691

Variant Present in the following documents:

• 13059_2017_1212_MOESM1_ESM.xlsx

View BVdb publication page

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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

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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

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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

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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

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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

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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

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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: rs116843064

PubMed Link: 27466198

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

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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

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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

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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

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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

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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

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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	-