Publications:

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Genetic mimicry analysis reveals the specific lipases targeted by the ANGPTL3/ANGPTL8 complex and ANGPTL4.

Journal Of Lipid Research

Landfors, Fredrik F; Chorell, Elin E; Kersten, Sander S

Publication Date: 2022-11-10

Variant appearance in text: ANGPTL8: Q121X; rs145464906

PubMed Link: 36372100

Variant Present in the following documents:

• Main text
• mmc2.xlsx, sheet 1
• main.pdf

View BVdb publication page

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New, Novel Lipid-Lowering Agents for Reducing Cardiovascular Risk: Beyond Statins.

Diabetes & Metabolism Journal

Kim, Kyuho K; Ginsberg, Henry N HN; Choi, Sung Hee SH

Publication Date: 2022-07

Variant appearance in text: rs145464906

PubMed Link: 35929170

Variant Present in the following documents:

• Main text
• dmj-2022-0198.pdf

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The Potential of ANGPTL8 Antagonism to Simultaneously Reduce Triglyceride and Increase HDL-Cholesterol Plasma Levels.

Frontiers In Cardiovascular Medicine

Zhang, Ren R

Publication Date: 2021

Variant appearance in text: ANGPTL8: 361C>T; rs145464906

PubMed Link: 34869703

Variant Present in the following documents:

• Main text
• fcvm-08-795370.pdf

View BVdb publication page

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ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease.

Plos Genetics

Helkkula, Pyry P; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Karjalainen, Juha J; Koskinen, Seppo S; Salomaa, Veikko V; Daly, Mark J MJ; Palotie, Aarno A; Surakka, Ida I; Ripatti, Samuli S; ,

Publication Date: 2021-04

Variant appearance in text: rs145464906

PubMed Link: 33909604

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: ANGPTL8: Gln121Ter; rs145464906

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 9

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Multi-trait analysis of rare-variant association summary statistics using MTAR.

Nature Communications

Luo, Lan L; Shen, Judong J; Zhang, Hong H; Chhibber, Aparna A; Mehrotra, Devan V DV; Tang, Zheng-Zheng ZZ

Publication Date: 2020-06-05

Variant appearance in text: rs145464906

PubMed Link: 32503972

Variant Present in the following documents:

• 41467_2020_16591_MOESM1_ESM.pdf

View BVdb publication page

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Association of ANGPTL8 (Betatrophin) Gene Variants with Components of Metabolic Syndrome in Arab Adults.

Scientific Reports

Alenad, Amal A; Alenezi, Mona M MM; Alokail, Majed S MS; Wani, Kaiser K; Mohammed, Abdul Khader AK; Alnaami, Abdullah M AM; Sulimani, Maha M; Zargar, Seema S; Clerici, Mario M; Al-Daghri, Nasser M NM

Publication Date: 2020-04-21

Variant appearance in text: rs145464906

PubMed Link: 32317770

Variant Present in the following documents:

• Main text
• 41598_2020_Article_63850.pdf

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: C19orf80: 361C>T

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Plasma Betatrophin Levels and Carotid Atherosclerosis.

Disease Markers

Niki, Hanako H; Kishimoto, Yoshimi Y; Saita, Emi E; Ohmori, Reiko R; Kondo, Kazuo K; Momiyama, Yukihiko Y

Publication Date: 2019

Variant appearance in text: rs145464906

PubMed Link: 31772685

Variant Present in the following documents:

• Main text
• DM2019-4214650.pdf

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

Klarin, Derek D; Damrauer, Scott M SM; Cho, Kelly K; Sun, Yan V YV; Teslovich, Tanya M TM; Honerlaw, Jacqueline J; Gagnon, David R DR; DuVall, Scott L SL; Li, Jin J; Peloso, Gina M GM; Chaffin, Mark M; Small, Aeron M AM; Huang, Jie J; Tang, Hua H; Lynch, Julie A JA; Ho, Yuk-Lam YL; Liu, Dajiang J DJ; Emdin, Connor A CA; Li, Alexander H AH; Huffman, Jennifer E JE; Lee, Jennifer S JS; Natarajan, Pradeep P; Chowdhury, Rajiv R; Saleheen, Danish D; Vujkovic, Marijana M; Baras, Aris A; Pyarajan, Saiju S; Di Angelantonio, Emanuele E; Neale, Benjamin M BM; Naheed, Aliya A; Khera, Amit V AV; Danesh, John J; Chang, Kyong-Mi KM; Abecasis, Gonçalo G; Willer, Cristen C; Dewey, Frederick E FE; Carey, David J DJ; , ; , ; , ; , ; Concato, John J; Gaziano, J Michael JM; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Kathiresan, Sekar S; Rader, Daniel J DJ; Wilson, Peter W F PWF; Assimes, Themistocles L TL

Publication Date: 2018-11

Variant appearance in text: ANGPTL8: Gln121Ter

PubMed Link: 30275531

Variant Present in the following documents:

• Main text
• NIHMS1502930-supplement-16.pdf
• nihms-1502930.pdf

View BVdb publication page

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Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia.

Journal Of Biomedical Research

Tarugi, Patrizia P; Bertolini, Stefano S; Calandra, Sebastiano S

Publication Date: 2019-04-22

Variant appearance in text: ANGPTL8: Gln121*; rs145464906

PubMed Link: 29752428

Variant Present in the following documents:

• Main text
• jbr-33-2-73.pdf

View BVdb publication page

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: C19orf80: Q121X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 4

View BVdb publication page

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Genetics of Lipid and Lipoprotein Disorders and Traits.

Current Genetic Medicine Reports

Dron, Jacqueline S JS; Hegele, Robert A RA

Publication Date: 2016

Variant appearance in text: rs145464906

PubMed Link: 28286704

Variant Present in the following documents:

• Main text
• 40142_2016_Article_97.pdf

View BVdb publication page

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

Journal Of Lipid Research

Hegele, Robert A RA

Publication Date: 2016-09

Variant appearance in text: ANGPTL8: Q121X; rs145464906

PubMed Link: 27412676

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: C19orf80: Q121X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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

Hanson, Robert L RL; Leti, Fatjon F; Tsinajinnie, Darwin D; Kobes, Sayuko S; Puppala, Sobha S; Curran, Joanne E JE; Almasy, Laura L; Lehman, Donna M DM; Blangero, John J; Duggirala, Ravindranath R; DiStefano, Johanna K JK

Publication Date: 2016-06

Variant appearance in text: rs145464906

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

Zhang, Ren R

Publication Date: 2016-04

Variant appearance in text: rs145464906

PubMed Link: 27053679

Variant Present in the following documents:

• Main text

View BVdb publication page

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De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Plos One

Strom, Samuel P SP; Clark, Michael J MJ; Martinez, Ariadna A; Garcia, Sarah S; Abelazeem, Amira A AA; Matynia, Anna A; Parikh, Sachin S; Sullivan, Lori S LS; Bowne, Sara J SJ; Daiger, Stephen P SP; Gorin, Michael B MB

Publication Date: 2016

Variant appearance in text: C19orf80: Q121*

PubMed Link: 26964041

Variant Present in the following documents:

• pone.0150944.s002.xls, sheet 1

View BVdb publication page

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A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans.

Bmc Endocrine Disorders

Clapham, Katharine R KR; Chu, Audrey Y AY; Wessel, Jennifer J; Natarajan, Pradeep P; Flannick, Jason J; Rivas, Manuel A MA; Sartori, Samantha S; Mehran, Roxana R; Baber, Usman U; Fuster, Valentin V; Scott, Robert A RA; Rader, Daniel J DJ; Boehnke, Michael M; McCarthy, Mark I MI; Altshuler, David M DM; Kathiresan, Sekar S; Peloso, Gina M GM

Publication Date: 2016-01-28

Variant appearance in text: ANGPTL8: Q121X

PubMed Link: 26822414

Variant Present in the following documents:

• Main text
• 12902_2016_Article_88.pdf
• 12902_2016_88_MOESM1_ESM.pdf

View BVdb publication page

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: C19orf80: Q121X; rs145464906

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.xlsx, sheet 1

View BVdb publication page

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Insights into blood lipids from rare variant discovery.

Current Opinion In Genetics & Development

Schmidt, Ellen M EM; Willer, Cristen J CJ

Publication Date: 2015-08

Variant appearance in text: ANGPTL8: 361C>T; rs145464906

PubMed Link: 26241468

Variant Present in the following documents:

• Main text

View BVdb publication page

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A dual role of lipasin (betatrophin) in lipid metabolism and glucose homeostasis: consensus and controversy.

Cardiovascular Diabetology

Zhang, Ren R; Abou-Samra, Abdul B AB

Publication Date: 2014-09-13

Variant appearance in text: rs145464906

PubMed Link: 25212743

Variant Present in the following documents:

• Main text
• 12933_2014_Article_133.pdf

View BVdb publication page

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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

Peloso, Gina M GM; Auer, Paul L PL; Bis, Joshua C JC; Voorman, Arend A; Morrison, Alanna C AC; Stitziel, Nathan O NO; Brody, Jennifer A JA; Khetarpal, Sumeet A SA; Crosby, Jacy R JR; Fornage, Myriam M; Isaacs, Aaron A; Jakobsdottir, Johanna J; Feitosa, Mary F MF; Davies, Gail G; Huffman, Jennifer E JE; Manichaikul, Ani A; Davis, Brian B; Lohman, Kurt K; Joon, Aron Y AY; Smith, Albert V AV; Grove, Megan L ML; Zanoni, Paolo P; Redon, Valeska V; Demissie, Serkalem S; Lawson, Kim K; Peters, Ulrike U; Carlson, Christopher C; Jackson, Rebecca D RD; Ryckman, Kelli K KK; Mackey, Rachel H RH; Robinson, Jennifer G JG; Siscovick, David S DS; Schreiner, Pamela J PJ; Mychaleckyj, Josyf C JC; Pankow, James S JS; Hofman, Albert A; Uitterlinden, Andre G AG; Harris, Tamara B TB; Taylor, Kent D KD; Stafford, Jeanette M JM; Reynolds, Lindsay M LM; Marioni, Riccardo E RE; Dehghan, Abbas A; Franco, Oscar H OH; Patel, Aniruddh P AP; Lu, Yingchang Y; Hindy, George G; Gottesman, Omri O; Bottinger, Erwin P EP; Melander, Olle O; Orho-Melander, Marju M; Loos, Ruth J F RJ; Duga, Stefano S; Merlini, Piera Angelica PA; Farrall, Martin M; Goel, Anuj A; Asselta, Rosanna R; Girelli, Domenico D; Martinelli, Nicola N; Shah, Svati H SH; Kraus, William E WE; Li, Mingyao M; Rader, Daniel J DJ; Reilly, Muredach P MP; McPherson, Ruth R; Watkins, Hugh H; Ardissino, Diego D; , ; Zhang, Qunyuan Q; Wang, Judy J; Tsai, Michael Y MY; Taylor, Herman A HA; Correa, Adolfo A; Griswold, Michael E ME; Lange, Leslie A LA; Starr, John M JM; Rudan, Igor I; Eiriksdottir, Gudny G; Launer, Lenore J LJ; Ordovas, Jose M JM; Levy, Daniel D; Chen, Y-D Ida YD; Reiner, Alexander P AP; Hayward, Caroline C; Polasek, Ozren O; Deary, Ian J IJ; Borecki, Ingrid B IB; Liu, Yongmei Y; Gudnason, Vilmundur V; Wilson, James G JG; van Duijn, Cornelia M CM; Kooperberg, Charles C; Rich, Stephen S SS; Psaty, Bruce M BM; Rotter, Jerome I JI; O'Donnell, Christopher J CJ; Rice, Kenneth K; Boerwinkle, Eric E; Kathiresan, Sekar S; Cupples, L Adrienne LA

Publication Date: 2014-02-06

Variant appearance in text: ANGPTL8: 361C>T; rs145464906

PubMed Link: 24507774

Variant Present in the following documents:

• Main text

View BVdb publication page

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