Variant ID: 1-55505647-G-T

NM_174936.3(PCSK9):c.137G>T;(p.Arg46Leu)

This variant was identified in 165 publications


Data for the 100 most recent publications are displayed below.


Publications:


Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers In Neuroscience
EM O'Connell, FW Lohoff
Publication Date: 2020

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 32595449
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PCSK9 Expression in Epicardial Adipose Tissue: Molecular Association with Local Tissue Inflammation.

Mediators Of Inflammation
E Dozio, M Ruscica, E Vianello, C Macchi, C Sitzia, G Schmitz, L Tacchini, MM Corsi Romanelli
Publication Date: 2020

Variant appearance in text: PCSK9: R46L
PMID: 32565719
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A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.

Internal Medicine (Tokyo, Japan)
H Tada, H Okada, A Nomura, A Nohara, M Takamura, MA Kawashiri
Publication Date: 2020

Variant appearance in text: PCSK9: Arg46Leu
PMID: 32173689
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Research progress on alternative non-classical mechanisms of PCSK9 in atherosclerosis in patients with and without diabetes.

Cardiovascular Diabetology
Y Tang, SL Li, JH Hu, KJ Sun, LL Liu, DY Xu
Publication Date: 2020-03-13

Variant appearance in text: PCSK9: R46L
PMID: 32169071
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Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society
A Garg, S Fazio, PB Duell, A Baass, C Udata, T Joh, T Riel, M Sirota, D Dettling, H Liang, PD Garzone, B Gumbiner, H Wan
Publication Date: 2020-01-01

Variant appearance in text: PCSK9: R46L
PMID: 31993549
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A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal Of Biological Chemistry
SK Sarkar, ACY Foo, A Matyas, I Asikhia, T Kosenko, NK Goto, A Vergara-Jaque, TA Lagace
Publication Date: 2020-01-16

Variant appearance in text: PCSK9: R46L
PMID: 31949048
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Identifying cross-disease components of genetic risk across hospital data in the UK Biobank.

Nature Genetics
A Cortes, PK Albers, CA Dendrou, L Fugger, G McVean
Publication Date: 2019-12-23

Variant appearance in text: N/A
PMID: 31873298
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Management of Lipid Abnormalities in Patients with Diabetes.

Current Cardiology Reports
A Sillars, N Sattar
Publication Date: 2019-11-22

Variant appearance in text: N/A
PMID: 31758270
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The role of proprotein convertase subtilisin-kexin type 9 (PCSK9) in the vascular aging process - is there a link?

Kardiochirurgia I Torakochirurgia Polska = Polish Journal Of Cardio-Thoracic Surgery
MK Grobelna, E Strauss, Z Krasiński
Publication Date: 2019-10

Variant appearance in text: N/A
PMID: 31708986
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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
Publication Date: 2019-10-29

Variant appearance in text: N/A
PMID: 31664920
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A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.

Nature Communications
A Gallois, J Mefford, A Ko, A Vaysse, H Julienne, M Ala-Korpela, M Laakso, N Zaitlen, P Pajukanta, H Aschard
Publication Date: 2019-10-21

Variant appearance in text: N/A
PMID: 31636271
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Proprotein convertase subtilisin/kexin type 9 (PCSK9) in Alzheimer's disease: A genetic and proteomic multi-cohort study.

Plos One
C Picard, A Poirier, S Bélanger, A Labonté, D Auld, J Poirier,
Publication Date: 2019

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 31437157
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apoB/apoA-I Ratio and Lp(a) Associations With Aortic Valve Stenosis Incidence: Insights From the EPIC-Norfolk Prospective Population Study.

Journal Of The American Heart Association
KH Zheng, BJ Arsenault, Y Kaiser, KT Khaw, NJ Wareham, ESG Stroes, SM Boekholdt
Publication Date: 2019-08-20

Variant appearance in text: PCSK9: R46L
PMID: 31407609
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Reduced Proprotein convertase subtilisin/kexin 9 (PCSK9) function increases lipoteichoic acid clearance and improves outcomes in Gram positive septic shock patients.

Scientific Reports
AKK Leung, KR Genga, E Topchiy, M Cirstea, T Shimada, C Fjell, JA Russell, JH Boyd, KR Walley
Publication Date: 2019-07-22

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 31332258
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Proprotein Convertase Subtilisin/Kexin Type 9, Brain Cholesterol Homeostasis and Potential Implication for Alzheimer's Disease.

Frontiers In Aging Neuroscience
MP Adorni, M Ruscica, N Ferri, F Bernini, F Zimetti
Publication Date: 2019

Variant appearance in text: PCSK9: R46L
PMID: 31178716
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Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2019-04-22

Variant appearance in text: PCSK9: Arg46Leu
PMID: 31011892
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C679X loss-of-function PCSK9 variant is associated with lower fasting glucose in black South African adolescents: Birth to Twenty Plus Cohort.

Journal Of Clinical & Translational Endocrinology
T Chikowore, V Sahibdeen, LM Hendry, SA Norris, JH Goedecke, LK Micklesfield, Z Lombard
Publication Date: 2019-06

Variant appearance in text: PCSK9: R46L
PMID: 30899674
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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
PMID: 30774981
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Coronary artery disease, genetic risk and the metabolome in young individuals.

Wellcome Open Research
T Battram, L Hoskins, DA Hughes, J Kettunen, SM Ring, G Davey Smith, NJ Timpson
Publication Date: 2018

Variant appearance in text: N/A
PMID: 30740535
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PCSK9 loss-of-function variants and risk of infection and sepsis in the Reasons for Geographic and Racial Differences in Stroke (REGARDS) cohort.

Plos One
KA Mitchell, JX Moore, RS Rosenson, R Irvin, FW Guirgis, N Shapiro, M Safford, HE Wang
Publication Date: 2019

Variant appearance in text: PCSK9: R46L
PMID: 30726226
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Potential Causality and Emerging Medical Therapies for Lipoprotein(a) and Its Associated Oxidized Phospholipids in Calcific Aortic Valve Stenosis.

Circulation Research
S Tsimikas
Publication Date: 2019-02

Variant appearance in text: PCSK9: R46L
PMID: 30702993
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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
PMID: 30645169
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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
PMID: 30524137
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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
Publication Date: 2019-02-01

Variant appearance in text: PCSK9: R46L
PMID: 30482443
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Impact of PCSK9 loss-of-function genotype on 1-year mortality and recurrent infection in sepsis survivors.

Ebiomedicine
KR Genga, C Lo, MS Cirstea, FS Leitao Filho, KR Walley, JA Russell, A Linder, GA Francis, JH Boyd
Publication Date: 2018-12

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 30473376
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Causal effects of blood lipids on amyotrophic lateral sclerosis: a Mendelian randomization study.

Human Molecular Genetics
P Zeng, X Zhou
Publication Date: 2019-02-15

Variant appearance in text: N/A
PMID: 30445611
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The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology
RN Pitts, RH Eckel
Publication Date: 2014-12

Variant appearance in text: PCSK9: R46L
PMID: 30310488
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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: PCSK9: Arg46Leu
PMID: 30275531
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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
Publication Date: 2018

Variant appearance in text: PCSK9: Arg46Leu
PMID: 30271901
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Serum PCSK9 levels, but not PCSK9 polymorphisms, are associated with CAD risk and lipid profiles in southern Chinese Han population.

Lipids In Health And Disease
G Cai, L Yu, Z Huang, L Li, X Fu
Publication Date: 2018-09-11

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 30205809
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Comment on "Using Human 'Experiments of Nature' to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors".

Drug Safety
LD Ward, GJ Moffat, J Yuan, P Nioi
Publication Date: 2018-11

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 30066314
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Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke.

Circulation. Genomic And Precision Medicine
AS Rao, D Lindholm, MA Rivas, JW Knowles, SB Montgomery, E Ingelsson
Publication Date: 2018-07

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 29997226
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GWAS Reveal Targets in Vessel Wall Pathways to Treat Coronary Artery Disease.

Frontiers In Cardiovascular Medicine
AW Turner, D Wong, CN Dreisbach, CL Miller
Publication Date: 2018

Variant appearance in text: N/A
PMID: 29988570
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Risk of Neuropsychiatric Adverse Effects of Lipid-Lowering Drugs: A Mendelian Randomization Study.

The International Journal Of Neuropsychopharmacology
J Alghamdi, S Matou-Nasri, F Alghamdi, S Alghamdi, M Alfadhel, S Padmanabhan
Publication Date: 2018-12-01

Variant appearance in text: N/A
PMID: 29986042
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PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research
MD Shapiro, H Tavori, S Fazio
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: R46L
PMID: 29748367
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Liraglutide downregulates hepatic LDL receptor and PCSK9 expression in HepG2 cells and db/db mice through a HNF-1a dependent mechanism.

Cardiovascular Diabetology
SH Yang, RX Xu, CJ Cui, Y Wang, Y Du, ZG Chen, YH Yao, CY Ma, CG Zhu, YL Guo, NQ Wu, J Sun, BX Chen, JJ Li
Publication Date: 2018-04-04

Variant appearance in text: PCSK9: R46L
PMID: 29618348
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Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal Of Biological Chemistry
P Lebeau, K Platko, AA Al-Hashimi, JH Byun, Š Lhoták, N Holzapfel, G Gyulay, SA Igdoura, DR Cool, B Trigatti, NG Seidah, RC Austin
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: R46L
PMID: 29593095
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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
PMID: 29567679
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Lipid Target in Very High-Risk Cardiovascular Patients: Lesson from PCSK9 Monoclonal Antibodies.

Diseases (Basel, Switzerland)
G Ciccarelli, S D'Elia, M De Paulis, P Golino, G Cimmino
Publication Date: 2018-03-17

Variant appearance in text: PCSK9: R46L
PMID: 29562587
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Survival benefit of a low ratio of visceral to subcutaneous adipose tissue depends on LDL clearance versus production in sepsis.

Critical Care (London, England)
JGH Lee, KR Genga, C Pisitsak, JH Boyd, AKK Leung, JA Russell, KR Walley
Publication Date: 2018-03-06

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 29510719
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Multilocus Analysis of Genetic Susceptibility to Myocardial Infarction in Russians: Replication Study.

Acta Naturae
NG Kukava, BV Titov, GJ Osmak, NA Matveeva, OG Kulakova, AV Favorov, RM Shakhnovich, MY Ruda, OO Favorova
Publication Date: 2017

Variant appearance in text: N/A
PMID: 29340220
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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
Publication Date: 2018-01-16

Variant appearance in text: PCSK9: R46L
PMID: 29325642
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Using Human 'Experiments of Nature' to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors.

Drug Safety
RN Jerome, JM Pulley, DM Roden, JK Shirey-Rice, LA Bastarache, G R Bernard, L B Ekstrom, WJ Lancaster, JC Denny
Publication Date: 2018-03

Variant appearance in text: PCSK9: 137G>T; R46L; rs11591147
PMID: 29185237
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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: PCSK9: R46L
PMID: 29171014
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A Review of Pathway-Based Analysis Tools That Visualize Genetic Variants.

Frontiers In Genetics
E Cirillo, LD Parnell, CT Evelo
Publication Date: 2017

Variant appearance in text: N/A
PMID: 29163640
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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: PCSK9: Arg46Leu
PMID: 29083408
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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: PCSK9: Arg46Leu; rs11591147
PMID: 29083407
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ASGR1 - a new target for lowering non-HDL cholesterol.

Global Cardiology Science & Practice
M Hassan, K Wagdy
Publication Date: 2016-06-30

Variant appearance in text: PCSK9: R46L
PMID: 29043262
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Differential effects of PCSK9 variants on risk of coronary disease and ischaemic stroke.

European Heart Journal
JC Hopewell, R Malik, E Valdés-Márquez, BB Worrall, R Collins,
Publication Date: 2018-02-01

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 29020353
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The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice
NG Seidah
Publication Date: 2017-03-31

Variant appearance in text: PCSK9: R46L
PMID: 28971102
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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
Publication Date: 2018-01

Variant appearance in text: PCSK9: R46L
PMID: 28799203
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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
PMID: 28768753
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PCSK9 and carbohydrate metabolism: A double-edged sword.

World Journal Of Diabetes
TD Filippatos, S Filippas-Ntekouan, E Pappa, T Panagiotopoulou, V Tsimihodimos, MS Elisaf
Publication Date: 2017-07-15

Variant appearance in text: PCSK9: R46L
PMID: 28751953
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What is the impact of PCSK9 rs505151 and rs11591147 polymorphisms on serum lipids level and cardiovascular risk: a meta-analysis.

Lipids In Health And Disease
C Qiu, P Zeng, X Li, Z Zhang, B Pan, ZYF Peng, Y Li, Y Ma, Y Leng, R Chen
Publication Date: 2017-06-12

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 28606094
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A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Annals Of The Rheumatic Diseases
A Budu-Aggrey, J Bowes, PE Stuart, M Zawistowski, LC Tsoi, R Nair, DR Jadon, N McHugh, E Korendowych, JT Elder, A Barton, S Raychaudhuri
Publication Date: 2017-07

Variant appearance in text: PCSK9: R46L
PMID: 28501801
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PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
PY Zhang
Publication Date: 2017-03

Variant appearance in text: PCSK9: R46L
PMID: 28450903
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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: N/A
PMID: 28449691
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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
M Benn, BG Nordestgaard, R Frikke-Schmidt, A Tybjærg-Hansen
Publication Date: 2017-04-24

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 28438747
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Genetic Architecture of Familial Hypercholesterolaemia.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2017-05

Variant appearance in text: PCSK9: Arg46Leu
PMID: 28405938
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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
PMID: 28379727
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Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).

Atherosclerosis
M Futema, JA Cooper, M Charakida, C Boustred, N Sattar, J Deanfield, DA Lawlor, NJ Timpson, , SE Humphries, AD Hingorani
Publication Date: 2017-05

Variant appearance in text: PCSK9: Arg46Leu
PMID: 28349888
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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: N/A
PMID: 28270201
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The Relationship Between Coronary Artery Disease and Genetic Polymorphisms of Melanoma Inhibitory Activity 3.

Iranian Red Crescent Medical Journal
H Zaimkohan, M Keramatipour, SR Mirhafez, J Tavakkoly-Bazzaz, A Tahooni, M Piryaei, M Ghayour-Mobarhan, SM Ghaderian
Publication Date: 2016-09

Variant appearance in text: N/A
PMID: 28180021
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PCSK9 targets important for lipid metabolism.

Clinical Research In Cardiology Supplements
R Schulz, KD Schlüter
Publication Date: 2017-03

Variant appearance in text: PCSK9: R46L
PMID: 28176216
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Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom.

European Journal Of Human Genetics : Ejhg
H Chheda, P Palta, M Pirinen, S McCarthy, K Walter, S Koskinen, V Salomaa, M Daly, R Durbin, A Palotie, T Aittokallio, S Ripatti
Publication Date: 2017-04

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 28145424
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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: PCSK9: R46L
PMID: 28059951
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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
Publication Date: 2017-02

Variant appearance in text: N/A
PMID: 27908689
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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
PMID: 27856457
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Very low LDL-C levels may safely provide additional clinical cardiovascular benefit: the evidence to date.

International Journal Of Clinical Practice
T McCormack, R Dent, M Blagden
Publication Date: 2016-11

Variant appearance in text: PCSK9: R46L
PMID: 27739167
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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
Publication Date: 2016-10-03

Variant appearance in text: N/A
PMID: 27716211
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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
PMID: 27701660
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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
Publication Date: 2016-11

Variant appearance in text: N/A
PMID: 27668658
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Comparison of variance estimators for meta-analysis of instrumental variable estimates.

International Journal Of Epidemiology
AF Schmidt, AD Hingorani, BJ Jefferis, J White, R Groenwold, F Dudbridge,
Publication Date: 2016-12-01

Variant appearance in text: N/A
PMID: 27591262
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Management of Hypercholesterolemia, Appropriateness of Therapeutic Approaches and New Drugs in Patients with High Cardiovascular Risk.

High Blood Pressure & Cardiovascular Prevention : The Official Journal Of The Italian Society Of Hypertension
E Agabiti Rosei, M Salvetti
Publication Date: 2016-09

Variant appearance in text: PCSK9: R46L
PMID: 27567901
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Circulating PCSK9 levels and CETP plasma activity are independently associated in patients with metabolic diseases.

Cardiovascular Diabetology
J Girona, D Ibarretxe, N Plana, S Guaita-Esteruelas, N Amigo, M Heras, L Masana
Publication Date: 2016-08-04

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 27488210
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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: N/A
PMID: 27466198
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No effect of PCSK9 inhibitor alirocumab on the incidence of diabetes in a pooled analysis from 10 ODYSSEY Phase 3 studies.

European Heart Journal
HM Colhoun, HN Ginsberg, JG Robinson, LA Leiter, D Müller-Wieland, RR Henry, B Cariou, MT Baccara-Dinet, R Pordy, L Merlet, RH Eckel
Publication Date: 2016-10-14

Variant appearance in text: PCSK9: R46L
PMID: 27460890
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Translational and Therapeutic Approaches to the Understanding and Treatment of Dyslipidemia.

Arteriosclerosis, Thrombosis, And Vascular Biology
H Zhang, TQ de Aguiar Vallim, C Martel,
Publication Date: 2016-07

Variant appearance in text: PCSK9: R46L
PMID: 27335468
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Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer
Publication Date: 2016

Variant appearance in text: PCSK9: R46L
PMID: 27280970
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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
Publication Date: 2016-05

Variant appearance in text: PCSK9: R46L
PMID: 27247956
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Influence of Genetic Risk Factors on Coronary Heart Disease Occurrence in Afro-Caribbeans.

The Canadian Journal Of Cardiology
L Larifla, KE Beaney, L Foucan, J Bangou, CT Michel, J Martino, FL Velayoudom-Cephise, JA Cooper, SE Humphries
Publication Date: 2016-08

Variant appearance in text: N/A
PMID: 26971241
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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
PMID: 26934567
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The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.

The Pharmacogenomics Journal
Q Feng, WQ Wei, CP Chung, RT Levinson, L Bastarache, JC Denny, CM Stein
Publication Date: 2017-03

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 26902539
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Experimental Biology for the Identification of Causal Pathways in Atherosclerosis.

Cardiovascular Drugs And Therapy
Y Guo, MT Garcia-Barrio, L Wang, YE Chen
Publication Date: 2016-02

Variant appearance in text: N/A
PMID: 26847647
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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
PMID: 26802169
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PCSK9 inhibitors and cardiovascular disease: heralding a new therapeutic era.

Current Opinion In Lipidology
MJ Chapman, JK Stock, HN Ginsberg,
Publication Date: 2015-12

Variant appearance in text: PCSK9: R46L
PMID: 26780005
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FINEMAP: efficient variable selection using summary data from genome-wide association studies.

Bioinformatics (Oxford, England)
C Benner, CC Spencer, AS Havulinna, V Salomaa, S Ripatti, M Pirinen
Publication Date: 2016-05-15

Variant appearance in text: N/A
PMID: 26773131
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Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.

Scientific Reports
T Guo, RX Yin, F Huang, LM Yao, WX Lin, SL Pan
Publication Date: 2016-01-08

Variant appearance in text: N/A
PMID: 26744084
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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
PMID: 26690388
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Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine
T Guo, RX Yin, WX Lin, W Wang, F Huang, SL Pan
Publication Date: 2016-02

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 26493351
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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
PMID: 26366554
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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
PMID: 26343387
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Insights into blood lipids from rare variant discovery.

Current Opinion In Genetics & Development
EM Schmidt, CJ Willer
Publication Date: 2015-08

Variant appearance in text: PCSK9: 137G>T; R46L; rs11591147
PMID: 26241468
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Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population.

Plos One
KE Beaney, JA Cooper, S Ullah Shahid, W Ahmed, R Qamar, F Drenos, MA Crockard, SE Humphries
Publication Date: 2015

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 26133560
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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
Publication Date: 2015-06-18

Variant appearance in text: PCSK9: Arg46Leu
PMID: 26091039
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Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: PCSK9: 137G>T; R46L
PMID: 26036859
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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
PMID: 25961943
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Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology.

Plos One
F Drenos, E Grossi, M Buscema, SE Humphries
Publication Date: 2015

Variant appearance in text: rs11591147
PMID: 25951190
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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
Publication Date: 2015-07

Variant appearance in text: PCSK9: R46L
PMID: 25913303
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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: PCSK9: 137G>T; R46L; rs11591147
PMID: 25904937
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.137G>T p.Arg46Leu missense_variant 1/12 -
ENST00000452118.2 c.137G>T p.Arg46Leu missense_variant 1/6 -
NM_174936.4 c.137G>T p.Arg46Leu missense_variant 1/12 -