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
Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.
Global Heart
F Alnouri, FA Al-Allaf, M Athar, Z Abduljaleel, M Alabdullah, D Alammari, M Alanazi, F Alkaf, A Allehyani, MA Alotaiby, A Alshehri, A Bouazzaoui, H Karrar, MM Taher
Publication Date: 2020-02-28
Variant appearance in text: LPL: 1421C>G; S474*; rs328
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.
Lipids In Health And Disease
XY Li, N Pu, WW Chen, XL Shi, GF Zhang, L Ke, B Ye, ZH Tong, YH Wang, G Liu, JM Chen, Q Yang, WQ Li, JS Li
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
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,
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
Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.
Scientific Reports
LM Real, J Macías, A Rivero-Juárez, F Téllez, D Merino, S Moreno-Grau, A Orellana, J Gómez-Salgado, ME Sáez, M Frías, A Corma-Gómez, N Merchante, A Ruiz, A Caruz, JA Pineda,
Structure of lipoprotein lipase in complex with GPIHBP1.
Proceedings Of The National Academy Of Sciences Of The United States Of America
R Arora, AV Nimonkar, D Baird, C Wang, CH Chiu, PA Horton, S Hanrahan, R Cubbon, S Weldon, WR Tschantz, S Mueller, R Brunner, P Lehr, P Meier, J Ottl, A Voznesensky, P Pandey, TM Smith, A Stojanovic, A Flyer, TE Benson, MJ Romanowski, JW Trauger
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
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.
Ebiomedicine
JL Jin, D Sun, YX Cao, HW Zhang, YL Guo, NQ Wu, CG Zhu, Y Gao, QT Dong, G Liu, Q Dong, JJ Li
Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.
F1000Research
M Palacio Rojas, C Prieto, V Bermúdez, C Garicano, T Núñez Nava, MS Martínez, J Salazar, E Rojas, A Pérez, P Marca Vicuña, N González Martínez, S Maldonado Parra, K Hoedebecke, R D'Addosio, C Cano, J Rojas
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
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
Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size.
Genes
YA Barbitoff, EA Serebryakova, YA Nasykhova, AV Predeus, DE Polev, AR Shuvalova, EV Vasiliev, SP Urazov, AM Sarana, SG Scherbak, DV Gladyshev, MS Pokrovskaya, OV Sivakova, AN Meshkov, OM Drapkina, OS Glotov, AS Glotov
Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study.
Computational And Structural Biotechnology Journal
HR Marateb, MR Mohebian, SH Javanmard, AA Tavallaei, MH Tajadini, M Heidari-Beni, MA Mañanas, ME Motlagh, R Heshmat, M Mansourian, R Kelishadi
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.
Nature Communications
CA Emdin, AV Khera, M Chaffin, D Klarin, P Natarajan, K Aragam, M Haas, A Bick, SM Zekavat, A Nomura, 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 Chasman, P Ridker, J Denny, L Bastarache, JH Lichtman, G D'Onofrio, J Mattera, JA Spertus, WH Sheu, KD Taylor, BM Psaty, SS Rich, W Post, JI Rotter, YI Chen, H Krumholz, D Saleheen, S Gabriel, S Kathiresan
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Nature Genetics
A Mahajan, J Wessel, SM Willems, W Zhao, NR Robertson, AY Chu, W Gan, H Kitajima, D Taliun, NW Rayner, X Guo, Y Lu, M Li, RA Jensen, Y Hu, S Huo, KK Lohman, W Zhang, JP Cook, BP Prins, J Flannick, N Grarup, VV Trubetskoy, J Kravic, YJ Kim, DV Rybin, H Yaghootkar, M Müller-Nurasyid, K Meidtner, R Li-Gao, TV Varga, J Marten, J Li, AV Smith, P An, S Ligthart, S Gustafsson, G Malerba, A Demirkan, JF Tajes, V Steinthorsdottir, M Wuttke, C Lecoeur, M Preuss, LF Bielak, M Graff, HM Highland, AE Justice, DJ Liu, E Marouli, GM Peloso, HR Warren, , , , S Afaq, S Afzal, E Ahlqvist, P Almgren, N Amin, LB Bang, AG Bertoni, C Bombieri, J Bork-Jensen, I Brandslund, JA Brody, NP Burtt, M Canouil, YI Chen, YS Cho, C Christensen, SV Eastwood, KU Eckardt, K Fischer, G Gambaro, V Giedraitis, ML Grove, HG de Haan, S Hackinger, Y Hai, S Han, A Tybjærg-Hansen, MF Hivert, B Isomaa, S Jäger, ME Jørgensen, T Jørgensen, A Käräjämäki, BJ Kim, SS Kim, HA Koistinen, P Kovacs, J Kriebel, F Kronenberg, K Läll, LA Lange, JJ Lee, B Lehne, H Li, KH Lin, A Linneberg, CT Liu, J Liu, M Loh, R Mägi, V Mamakou, R McKean-Cowdin, G Nadkarni, M Neville, SF Nielsen, I Ntalla, PA Peyser, W Rathmann, K Rice, SS Rich, L Rode, O Rolandsson, S Schönherr, E Selvin, KS Small, A Stančáková, P Surendran, KD Taylor, TM Teslovich, B Thorand, G Thorleifsson, A Tin, A Tönjes, A Varbo, DR Witte, AR Wood, P Yajnik, J Yao, L Yengo, R Young, P Amouyel, H Boeing, E Boerwinkle, EP Bottinger, R Chowdhury, FS Collins, G Dedoussis, A Dehghan, P Deloukas, MM Ferrario, J Ferrières, JC Florez, P Frossard, V Gudnason, TB Harris, SR Heckbert, JMM Howson, M Ingelsson, S Kathiresan, F Kee, J Kuusisto, C Langenberg, LJ Launer, CM Lindgren, S Männistö, T Meitinger, O Melander, KL Mohlke, M Moitry, AD Morris, AD Murray, R de Mutsert, M Orho-Melander, KR Owen, M Perola, A Peters, MA Province, A Rasheed, PM Ridker, F Rivadineira, FR Rosendaal, AH Rosengren, V Salomaa, WH Sheu, R Sladek, BH Smith, K Strauch, AG Uitterlinden, R Varma, CJ Willer, M Blüher, AS Butterworth, JC Chambers, DI Chasman, J Danesh, C van Duijn, J Dupuis, OH Franco, PW Franks, P Froguel, H Grallert, L Groop, BG Han, T Hansen, AT Hattersley, C Hayward, E Ingelsson, SLR Kardia, F Karpe, JS Kooner, A Köttgen, K Kuulasmaa, M Laakso, X Lin, L Lind, Y Liu, RJF Loos, J Marchini, A Metspalu, D Mook-Kanamori, BG Nordestgaard, CNA Palmer, JS Pankow, O Pedersen, BM Psaty, R Rauramaa, N Sattar, MB Schulze, N Soranzo, TD Spector, K Stefansson, M Stumvoll, U Thorsteinsdottir, T Tuomi, J Tuomilehto, NJ Wareham, JG Wilson, E Zeggini, RA Scott, I Barroso, TM Frayling, MO Goodarzi, JB Meigs, M Boehnke, D Saleheen, AP Morris, JI Rotter, MI McCarthy
Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.
Plos Genetics
CN Spracklen, J Shi, S Vadlamudi, Y Wu, M Zou, CK Raulerson, JP Davis, M Zeynalzadeh, K Jackson, W Yuan, H Wang, W Shou, Y Wang, J Luo, LA Lange, EM Lange, BM Popkin, P Gordon-Larsen, S Du, W Huang, KL Mohlke
A novel LPL intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels.
Plos One
SA Al-Bustan, A Al-Serri, BG Annice, MA Alnaqeeb, WY Al-Kandari, M Dashti
Apolipoprotein E gene polymorphism modifies fasting total cholesterol concentrations in response to replacement of dietary saturated with monounsaturated fatty acids in adults at moderate cardiovascular disease risk.
Lipids In Health And Disease
IM Shatwan, M Weech, KG Jackson, JA Lovegrove, KS Vimaleswaran
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
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
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
Association between kidney function and genetic polymorphisms in atherosclerotic and chronic kidney diseases: A cross-sectional study in Japanese male workers.
Plos One
Y Kubo, T Imaizumi, M Ando, M Nakatochi, Y Yasuda, H Honda, Y Kuwatsuka, S Kato, K Kikuchi, T Kondo, M Iwata, T Nakashima, H Yasui, H Takamatsu, H Okajima, Y Yoshida, S Maruyama
Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.
Plos One
LC Pilling, JL Atkins, MO Duff, RN Beaumont, SE Jones, J Tyrrell, CL Kuo, KS Ruth, MA Tuke, H Yaghootkar, AR Wood, A Murray, MN Weedon, LW Harries, GA Kuchel, L Ferrucci, TM Frayling, D Melzer