Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.
Bmc Cardiovascular Disorders
AF Schmidt, MV Holmes, D Preiss, DI Swerdlow, S Denaxas, G Fatemifar, R Faraway, C Finan, D Valentine, Z Fairhurst-Hunter, FP Hartwig, BL Horta, E Hypponen, C Power, M Moldovan, E van Iperen, K Hovingh, I Demuth, K Norman, E Steinhagen-Thiessen, J Demuth, L Bertram, CM Lill, S Coassin, J Willeit, S Kiechl, K Willeit, D Mason, J Wright, R Morris, G Wanamethee, P Whincup, Y Ben-Shlomo, S McLachlan, JF Price, M Kivimaki, C Welch, A Sanchez-Galvez, P Marques-Vidal, A Nicolaides, AG Panayiotou, NC Onland-Moret, YT van der Schouw, G Matullo, G Fiorito, S Guarrera, C Sacerdote, NJ Wareham, C Langenberg, RA Scott, J Luan, M Bobak, S Malyutina, A Pająk, R Kubinova, A Tamosiunas, H Pikhart, N Grarup, O Pedersen, T Hansen, A Linneberg, T Jess, J Cooper, SE Humphries, M Brilliant, T Kitchner, H Hakonarson, DS Carrell, CA McCarty, KH Lester, EB Larson, DR Crosslin, M de Andrade, DM Roden, JC Denny, C Carty, S Hancock, J Attia, E Holliday, R Scott, P Schofield, M O'Donnell, S Yusuf, M Chong, G Pare, P van der Harst, MA Said, RN Eppinga, N Verweij, H Snieder, , T Christen, DO Mook-Kanamori, , S Gustafsson, L Lind, E Ingelsson, R Pazoki, O Franco, A Hofman, A Uitterlinden, A Dehghan, A Teumer, S Baumeister, M Dörr, MM Lerch, U Völker, H Völzke, J Ward, JP Pell, T Meade, IE Christophersen, AH Maitland-van der Zee, EV Baranova, R Young, I Ford, A Campbell, S Padmanabhan, ML Bots, DE Grobbee, P Froguel, D Thuillier, R Roussel, A Bonnefond, B Cariou, M Smart, Y Bao, M Kumari, A Mahajan, JC Hopewell, S Seshadri, , C Dale, RPE Costa, PM Ridker, DI Chasman, AP Reiner, MD Ritchie, LA Lange, AJ Cornish, SE Dobbins, K Hemminki, B Kinnersley, M Sanson, K Labreche, M Simon, M Bondy, P Law, H Speedy, J Allan, N Li, M Went, N Weinhold, G Morgan, P Sonneveld, B Nilsson, H Goldschmidt, A Sud, A Engert, M Hansson, H Hemingway, FW Asselbergs, RS Patel, BJ Keating, N Sattar, R Houlston, JP Casas, AD Hingorani
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
Npj Genomic Medicine
MS Safarova, BA Satterfield, X Fan, EE Austin, Z Ye, L Bastarache, N Zheng, MD Ritchie, KM Borthwick, MS Williams, EB Larson, A Scrol, GP Jarvik, DR Crosslin, K Leppig, LJ Rasmussen-Torvik, SA Pendergrass, AC Sturm, B Namjou, AS Shah, RJ Carroll, WK Chung, WQ Wei, Q Feng, CM Stein, DM Roden, TA Manolio, DJ Schaid, JC Denny, SJ Hebbring, M de Andrade, IJ Kullo
Publication Date: 2019
Variant appearance in text: PCSK9: R46L; rs11591147
Variation in Serum PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9), Cardiovascular Disease Risk, and an Investigation of Potential Unanticipated Effects of PCSK9 Inhibition.
Circulation. Genomic And Precision Medicine
BM Brumpton, LG Fritsche, J Zheng, JB Nielsen, M Mannila, I Surakka, H Rasheed, GÅ Vie, SE Graham, ME Gabrielsen, LE Laugsand, P Aukrust, LJ Vatten, JK Damås, T Ueland, I Janszky, JA Zwart, FM Van't Hooft, NG Seidah, K Hveem, C Willer, GD Smith, BO Åsvold,
Publication Date: 2019-01
Variant appearance in text: PCSK9: R46L; rs11591147
Metabolomic consequences of genetic inhibition of PCSK9 compared with statin treatment.
Circulation
E Sliz, J Kettunen, MV Holmes, CO Williams, C Boachie, Q Wang, M Männikkö, S Sebert, R Walters, K Lin, IY Millwood, R Clarke, L Li, N Rankin, P Welsh, C Delles, JW Jukema, S Trompet, I Ford, M Perola, V Salomaa, MR Järvelin, Z Chen, DA Lawlor, M Ala-Korpela, J Danesh, G Davey Smith, N Sattar, A Butterworth, P Würtz
Publication Date: 2018-11-27
Variant appearance in text: PCSK9: R46L; rs11591147
Effects of the coronary artery disease associated LPA and 9p21 loci on risk of aortic valve stenosis.
International Journal Of Cardiology
T Trenkwalder, CP Nelson, MD Musameh, IR Mordi, T Kessler, C Pellegrini, R Debiec, T Rheude, V Lazovic, L Zeng, A Martinsson, J Gustav Smith, JR Gådin, A Franco-Cereceda, P Eriksson, JB Nielsen, SE Graham, CJ Willer, K Hveem, A Kastrati, PS Braund, CNA Palmer, A Aracil, O Husser, W Koenig, H Schunkert, CC Lang, C Hengstenberg, NJ Samani
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
A rare missense variant in NR1H4 associates with lower cholesterol levels.
Communications Biology
AM Deaton, P Sulem, P Nioi, S Benonisdottir, LD Ward, OB Davidsson, S Lao, A Helgadottir, F Fan, BO Jensson, GL Norddahl, A Jonasdottir, A Jonasdottir, A Sigurdsson, RP Kristjansson, A Oddsson, GA Arnadottir, H Jonsson, I Olafsson, GI Eyjolfsson, O Sigurdardottir, ES Bjornsson, S Olafsson, T Steingrimsdottir, T Rafnar, G Thorgeirsson, G Masson, G Thorleifsson, DF Gudbjartsson, H Holm, U Thorsteinsdottir, K Stefansson
Genetic Factors Explain a Major Fraction of the 50% Lower Lipoprotein(a) Concentrations in Finns.
Arteriosclerosis, Thrombosis, And Vascular Biology
G Erhart, C Lamina, T Lehtimäki, P Marques-Vidal, M Kähönen, P Vollenweider, OT Raitakari, G Waeber, B Thorand, K Strauch, C Gieger, T Meitinger, A Peters, F Kronenberg, S Coassin
Publication Date: 2018-05
Variant appearance in text: PCSK9: R46L; rs11591147
NHLBI Working Group Recommendations to Reduce Lipoprotein(a)-Mediated Risk of Cardiovascular Disease and Aortic Stenosis.
Journal Of The American College Of Cardiology
S Tsimikas, S Fazio, KC Ferdinand, HN Ginsberg, ML Koschinsky, SM Marcovina, PM Moriarty, DJ Rader, AT Remaley, G Reyes-Soffer, RD Santos, G Thanassoulis, JL Witztum, S Danthi, M Olive, L Liu
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
Publication Date: 2017-12
Variant appearance in text: PCSK9: Arg46Leu; rs11591147
Efficacy and safety of alirocumab in people with prediabetes vs those with normoglycaemia at baseline: a pooled analysis of 10 phase III ODYSSEY clinical trials.
Diabetic Medicine : A Journal Of The British Diabetic Association
LA Leiter, D Müller-Wieland, MT Baccara-Dinet, A Letierce, R Samuel, B Cariou
PCSK9 Loss-of-Function Variants, Low-Density Lipoprotein Cholesterol, and Risk of Coronary Heart Disease and Stroke: Data From 9 Studies of Blacks and Whites.
Circulation. Cardiovascular Genetics
ST Kent, RS Rosenson, CL Avery, YI Chen, A Correa, SR Cummings, LA Cupples, M Cushman, DS Evans, V Gudnason, TB Harris, G Howard, MR Irvin, SE Judd, JW Jukema, L Lange, EB Levitan, X Li, Y Liu, WS Post, I Postmus, BM Psaty, JI Rotter, MM Safford, CM Sitlani, AV Smith, JD Stewart, S Trompet, F Sun, RS Vasan, JM Woolley, EA Whitsel, KL Wiggins, JG Wilson, P Muntner
Publication Date: 2017-08
Variant appearance in text: PCSK9: R46L; rs11591147
Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics.
Assay And Drug Development Technologies
JM Pulley, JK Shirey-Rice, RR Lavieri, RN Jerome, NM Zaleski, DM Aronoff, L Bastarache, X Niu, KJ Holroyd, DM Roden, EP Skaar, CM Niswender, LJ Marnett, CW Lindsley, LB Ekstrom, AR Bentley, GR Bernard, CC Hong, JC Denny
Publication Date: 2017-04
Variant appearance in text: PCSK9: R46L; rs11591147
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
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
The Lancet. Diabetes & Endocrinology
AF Schmidt, DI Swerdlow, MV Holmes, RS Patel, Z Fairhurst-Hunter, DM Lyall, FP Hartwig, BL Horta, E Hyppönen, C Power, M Moldovan, E van Iperen, GK Hovingh, I Demuth, K Norman, E Steinhagen-Thiessen, J Demuth, L Bertram, T Liu, S Coassin, J Willeit, S Kiechl, K Willeit, D Mason, J Wright, R Morris, G Wanamethee, P Whincup, Y Ben-Shlomo, S McLachlan, JF Price, M Kivimaki, C Welch, A Sanchez-Galvez, P Marques-Vidal, A Nicolaides, AG Panayiotou, NC Onland-Moret, YT van der Schouw, G Matullo, G Fiorito, S Guarrera, C Sacerdote, NJ Wareham, C Langenberg, R Scott, J Luan, M Bobak, S Malyutina, A Pająk, R Kubinova, A Tamosiunas, H Pikhart, LL Husemoen, N Grarup, O Pedersen, T Hansen, A Linneberg, KS Simonsen, J Cooper, SE Humphries, M Brilliant, T Kitchner, H Hakonarson, DS Carrell, CA McCarty, HL Kirchner, EB Larson, DR Crosslin, M de Andrade, DM Roden, JC Denny, C Carty, S Hancock, J Attia, E Holliday, M O'Donnell, S Yusuf, M Chong, G Pare, P van der Harst, MA Said, RN Eppinga, N Verweij, H Snieder, , T Christen, DO Mook-Kanamori, S Gustafsson, L Lind, E Ingelsson, R Pazoki, O Franco, A Hofman, A Uitterlinden, A Dehghan, A Teumer, S Baumeister, M Dörr, MM Lerch, U Völker, H Völzke, J Ward, JP Pell, DJ Smith, T Meade, AH Maitland-van der Zee, EV Baranova, R Young, I Ford, A Campbell, S Padmanabhan, ML Bots, DE Grobbee, P Froguel, D Thuillier, B Balkau, A Bonnefond, B Cariou, M Smart, Y Bao, M Kumari, A Mahajan, PM Ridker, DI Chasman, AP Reiner, LA Lange, MD Ritchie, FW Asselbergs, JP Casas, BJ Keating, D Preiss, AD Hingorani, , N Sattar
Carriers of the PCSK9 R46L Variant Are Characterized by an Antiatherogenic Lipoprotein Profile Assessed by Nuclear Magnetic Resonance Spectroscopy-Brief Report.
Arteriosclerosis, Thrombosis, And Vascular Biology
R Verbeek, M Boyer, SM Boekholdt, GK Hovingh, JJ Kastelein, N Wareham, KT Khaw, BJ Arsenault
Publication Date: 2017-01
Variant appearance in text: PCSK9: R46L; rs11591147
A 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics.
Cardiovascular Diabetology
KE Beaney, CE Ward, DA Bappa, N McGale, AK Davies, SP Hirani, K Li, P Howard, DR Vance, MA Crockard, JV Lamont, S Newman, SE Humphries
Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis.
Jama
LA Lotta, SJ Sharp, S Burgess, JRB Perry, ID Stewart, SM Willems, J Luan, E Ardanaz, L Arriola, B Balkau, H Boeing, P Deloukas, NG Forouhi, PW Franks, S Grioni, R Kaaks, TJ Key, C Navarro, PM Nilsson, K Overvad, D Palli, S Panico, JR Quirós, E Riboli, O Rolandsson, C Sacerdote, EC Salamanca, N Slimani, AM Spijkerman, A Tjonneland, R Tumino, DL van der A, YT van der Schouw, MI McCarthy, I Barroso, S O'Rahilly, DB Savage, N Sattar, C Langenberg, RA Scott, NJ Wareham
Publication Date: 2016-10-04
Variant appearance in text: PCSK9: R46L; rs11591147
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Nature Genetics
V Iotchkova, J Huang, JA Morris, D Jain, C Barbieri, K Walter, JL Min, L Chen, W Astle, M Cocca, P Deelen, H Elding, AE Farmaki, CS Franklin, M Franberg, TR Gaunt, A Hofman, T Jiang, ME Kleber, G Lachance, J Luan, G Malerba, A Matchan, D Mead, Y Memari, I Ntalla, K Panoutsopoulou, R Pazoki, JRB Perry, F Rivadeneira, M Sabater-Lleal, B Sennblad, SY Shin, L Southam, M Traglia, F van Dijk, EM van Leeuwen, G Zaza, W Zhang, , N Amin, A Butterworth, JC Chambers, G Dedoussis, A Dehghan, OH Franco, L Franke, M Frontini, G Gambaro, P Gasparini, A Hamsten, A Issacs, JS Kooner, C Kooperberg, C Langenberg, W Marz, RA Scott, MA Swertz, D Toniolo, AG Uitterlinden, CM van Duijn, H Watkins, E Zeggini, MT Maurano, NJ Timpson, AP Reiner, PL Auer, N Soranzo
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
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.
Molecular Genetics & Genomic Medicine
AC Fahed, R Khalaf, R Salloum, RR Andary, R Safa, I El-Rassy, E Moubarak, ST Azar, FF Bitar, G Nemer
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.
The New England Journal Of Medicine
, NO Stitziel, KE Stirrups, NG Masca, J Erdmann, PG Ferrario, IR König, PE Weeke, TR Webb, PL Auer, UM Schick, Y Lu, H Zhang, MP Dube, A Goel, M Farrall, GM Peloso, HH Won, R Do, E van Iperen, S Kanoni, J Kruppa, A Mahajan, RA Scott, C Willenberg, PS Braund, JC van Capelleveen, AS Doney, LA Donnelly, R Asselta, PA Merlini, S Duga, N Marziliano, JC Denny, CM Shaffer, NE El-Mokhtari, A Franke, O Gottesman, S Heilmann, C Hengstenberg, P Hoffman, OL Holmen, K Hveem, JH Jansson, KH Jöckel, T Kessler, J Kriebel, KL Laugwitz, E Marouli, N Martinelli, MI McCarthy, NR Van Zuydam, C Meisinger, T Esko, E Mihailov, SA Escher, M Alver, S Moebus, AD Morris, M Müller-Nurasyid, M Nikpay, O Olivieri, LP Lemieux Perreault, A AlQarawi, NR Robertson, KO Akinsanya, DF Reilly, TF Vogt, W Yin, FW Asselbergs, C Kooperberg, RD Jackson, E Stahl, K Strauch, TV Varga, M Waldenberger, L Zeng, AT Kraja, C Liu, GB Ehret, C Newton-Cheh, DI Chasman, R Chowdhury, M Ferrario, I Ford, JW Jukema, F Kee, K Kuulasmaa, BG Nordestgaard, M Perola, D Saleheen, N Sattar, P Surendran, D Tregouet, R Young, JM Howson, AS Butterworth, J Danesh, D Ardissino, EP Bottinger, R Erbel, PW Franks, D Girelli, AS Hall, GK Hovingh, A Kastrati, W Lieb, T Meitinger, WE Kraus, SH Shah, R McPherson, M Orho-Melander, O Melander, A Metspalu, CN Palmer, A Peters, D Rader, MP Reilly, RJ Loos, AP Reiner, DM Roden, JC Tardif, JR Thompson, NJ Wareham, H Watkins, CJ Willer, S Kathiresan, P Deloukas, NJ Samani, H Schunkert
Publication Date: 2016-03-24
Variant appearance in text: PCSK9: R46L; rs11591147
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
Journal Of Lipid Research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
Publication Date: 2016-03
Variant appearance in text: PCSK9: Arg46Leu; rs11591147
Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.
Nature Communications
CS Tang, H Zhang, CY Cheung, M Xu, JC Ho, W Zhou, SS Cherny, Y Zhang, O Holmen, KW Au, H Yu, L Xu, J Jia, RM Porsch, L Sun, W Xu, H Zheng, LY Wong, Y Mu, J Dou, CH Fong, S Wang, X Hong, L Dong, Y Liao, J Wang, LS Lam, X Su, H Yan, ML Yang, J Chen, CW Siu, G Xie, YC Woo, Y Wu, KC Tan, K Hveem, BM Cheung, S Zöllner, A Xu, Y Eugene Chen, CQ Jiang, Y Zhang, TH Lam, SK Ganesh, Y Huo, PC Sham, KS Lam, CJ Willer, HF Tse, W Gao
Publication Date: 2015-12-22
Variant appearance in text: PCSK9: Arg46Leu; rs11591147
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.
Nature Genetics
C Sidore, F Busonero, A Maschio, E Porcu, S Naitza, M Zoledziewska, A Mulas, G Pistis, M Steri, F Danjou, A Kwong, VD Ortega Del Vecchyo, CWK Chiang, J Bragg-Gresham, M Pitzalis, R Nagaraja, B Tarrier, C Brennan, S Uzzau, C Fuchsberger, R Atzeni, F Reinier, R Berutti, J Huang, NJ Timpson, D Toniolo, P Gasparini, G Malerba, G Dedoussis, E Zeggini, N Soranzo, C Jones, R Lyons, A Angius, HM Kang, J Novembre, S Sanna, D Schlessinger, F Cucca, GR Abecasis
Publication Date: 2015-11
Variant appearance in text: PCSK9: R46L; rs11591147
A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
Nature Genetics
M Nikpay, A Goel, HH Won, LM Hall, C Willenborg, S Kanoni, D Saleheen, T Kyriakou, CP Nelson, JC Hopewell, TR Webb, L Zeng, A Dehghan, M Alver, SM Armasu, K Auro, A Bjonnes, DI Chasman, S Chen, I Ford, N Franceschini, C Gieger, C Grace, S Gustafsson, J Huang, SJ Hwang, YK Kim, ME Kleber, KW Lau, X Lu, Y Lu, LP Lyytikäinen, E Mihailov, AC Morrison, N Pervjakova, L Qu, LM Rose, E Salfati, R Saxena, M Scholz, AV Smith, E Tikkanen, A Uitterlinden, X Yang, W Zhang, W Zhao, M de Andrade, PS de Vries, NR van Zuydam, SS Anand, L Bertram, F Beutner, G Dedoussis, P Frossard, D Gauguier, AH Goodall, O Gottesman, M Haber, BG Han, J Huang, S Jalilzadeh, T Kessler, IR König, L Lannfelt, W Lieb, L Lind, CM Lindgren, ML Lokki, PK Magnusson, NH Mallick, N Mehra, T Meitinger, FU Memon, AP Morris, MS Nieminen, NL Pedersen, A Peters, LS Rallidis, A Rasheed, M Samuel, SH Shah, J Sinisalo, KE Stirrups, S Trompet, L Wang, KS Zaman, D Ardissino, E Boerwinkle, IB Borecki, EP Bottinger, JE Buring, JC Chambers, R Collins, LA Cupples, J Danesh, I Demuth, R Elosua, SE Epstein, T Esko, MF Feitosa, OH Franco, MG Franzosi, CB Granger, D Gu, V Gudnason, AS Hall, A Hamsten, TB Harris, SL Hazen, C Hengstenberg, A Hofman, E Ingelsson, C Iribarren, JW Jukema, PJ Karhunen, BJ Kim, JS Kooner, IJ Kullo, T Lehtimäki, RJF Loos, O Melander, A Metspalu, W März, CN Palmer, M Perola, T Quertermous, DJ Rader, PM Ridker, S Ripatti, R Roberts, V Salomaa, DK Sanghera, SM Schwartz, U Seedorf, AF Stewart, DJ Stott, J Thiery, PA Zalloua, CJ O'Donnell, MP Reilly, TL Assimes, JR Thompson, J Erdmann, R Clarke, H Watkins, S Kathiresan, R McPherson, P Deloukas, H Schunkert, NJ Samani, M Farrall
Publication Date: 2015-10
Variant appearance in text: PCSK9: R46L; rs11591147
A Single Kinase Generates the Majority of the Secreted Phosphoproteome.
Cell
VS Tagliabracci, SE Wiley, X Guo, LN Kinch, E Durrant, J Wen, J Xiao, J Cui, KB Nguyen, JL Engel, JJ Coon, N Grishin, LA Pinna, DJ Pagliarini, JE Dixon
The impact of low-frequency and rare variants on lipid levels.
Nature Genetics
I Surakka, M Horikoshi, R Mägi, AP Sarin, A Mahajan, V Lagou, L Marullo, T Ferreira, B Miraglio, S Timonen, J Kettunen, M Pirinen, J Karjalainen, G Thorleifsson, S Hägg, JJ Hottenga, A Isaacs, C Ladenvall, M Beekman, T Esko, JS Ried, CP Nelson, C Willenborg, S Gustafsson, HJ Westra, M Blades, AJ de Craen, EJ de Geus, J Deelen, H Grallert, A Hamsten, AS Havulinna, C Hengstenberg, JJ Houwing-Duistermaat, E Hyppönen, LC Karssen, T Lehtimäki, V Lyssenko, PK Magnusson, E Mihailov, M Müller-Nurasyid, JP Mpindi, NL Pedersen, BW Penninx, M Perola, TH Pers, A Peters, J Rung, JH Smit, V Steinthorsdottir, MD Tobin, N Tsernikova, EM van Leeuwen, JS Viikari, SM Willems, G Willemsen, H Schunkert, J Erdmann, NJ Samani, J Kaprio, L Lind, C Gieger, A Metspalu, PE Slagboom, L Groop, CM van Duijn, JG Eriksson, A Jula, V Salomaa, DI Boomsma, C Power, OT Raitakari, E Ingelsson, MR Järvelin, U Thorsteinsdottir, L Franke, E Ikonen, O Kallioniemi, V Pietiäinen, CM Lindgren, K Stefansson, A Palotie, MI McCarthy, AP Morris, I Prokopenko, S Ripatti,
Publication Date: 2015-06
Variant appearance in text: PCSK9: Arg46Leu; rs11591147
β-Estradiol results in a proprotein convertase subtilisin/kexin type 9-dependent increase in low-density lipoprotein receptor levels in human hepatic HuH7 cells.
The Febs Journal
AE Starr, V Lemieux, J Noad, JI Moore, T Dewpura, A Raymond, M Chrétien, D Figeys, J Mayne