Variant ID: 1-55505647-G-T

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

This variant was identified in 251 publications




Publications:


Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics
V Vasilyev, F Zakharova, T Bogoslovskay, M Mandelshtam
Publication Date: 2020

Variant appearance in text: N/A
PubMed Link: 33391333
Variant Present in the following documents:
View BVdb publication page



Lipoprotein(a) and PCSK9 inhibition: clinical evidence.

European Heart Journal Supplements : Journal Of The European Society Of Cardiology
M Ruscica, MF Greco, N Ferri, A Corsini
Publication Date: 2020-11

Variant appearance in text: PCSK9: R46L
PubMed Link: 33239979
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: PCSK9: R46L
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Depression and cardiovascular risk-association among Beck Depression Inventory, PCSK9 levels and insulin resistance.

Cardiovascular Diabetology
C Macchi, C Favero, A Ceresa, L Vigna, DM Conti, AC Pesatori, G Racagni, A Corsini, N Ferri, CR Sirtori, M Buoli, V Bollati, M Ruscica
Publication Date: 2020-11-03

Variant appearance in text: rs11591147
PubMed Link: 33143700
Variant Present in the following documents:
  • Main text
View BVdb publication page



microRNA-483 ameliorates hypercholesterolemia by inhibiting PCSK9 production.

Jci Insight
J Dong, M He, J Li, A Pessentheiner, C Wang, J Zhang, Y Sun, WT Wang, Y Zhang, J Liu, SC Wang, PH Huang, PL Gordts, ZY Yuan, S Tsimikas, JY Shyy
Publication Date: 2020-12-03

Variant appearance in text: PCSK9: R46L
PubMed Link: 33119548
Variant Present in the following documents:
  • Main text
View BVdb publication page



Efficacy and safety of PCSK9 monoclonal antibodies: an evidence-based review and update.

Journal Of Drug Assessment
R Kaddoura, B Orabi, AM Salam
Publication Date: 2020-08-11

Variant appearance in text: PCSK9: R46L
PubMed Link: 32939318
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia: A case report.

Medicine
A Bayona, F Arrieta, C Rodríguez-Jiménez, F Cerrato, S Rodríguez-Nóvoa, M Fernández-Lucas, D Gómez-Coronado, P Mata
Publication Date: 2020-08-21

Variant appearance in text: PCSK9: 137G>T; Arg46Leu
PubMed Link: 32846800
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 and Calcific Aortic Valve Stenosis: Moving Beyond Lipids.

Jacc. Basic To Translational Science
JA Leopold
Publication Date: 2020-07

Variant appearance in text: PCSK9: R46L
PubMed Link: 32760918
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and In Vitro Inhibition of PCSK9 and Calcific Aortic Valve Stenosis.

Jacc. Basic To Translational Science
N Perrot, V Valerio, D Moschetta, SM Boekholdt, C Dina, HY Chen, E Abner, A Martinsson, HD Manikpurage, S Rigade, R Capoulade, E Mass, MA Clavel, T Le Tourneau, D Messika-Zeitoun, NJ Wareham, JC Engert, G Polvani, P Pibarot, T Esko, JG Smith, P Mathieu, G Thanassoulis, JJ Schott, Y Bossé, M Camera, S Thériault, P Poggio, BJ Arsenault
Publication Date: 2020-07

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 32760854
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipoprotein(a) Lowering-From Lipoprotein Apheresis to Antisense Oligonucleotide Approach.

Journal Of Clinical Medicine
MF Greco, CR Sirtori, A Corsini, M Ezhov, T Sampietro, M Ruscica
Publication Date: 2020-07-03

Variant appearance in text: PCSK9: R46L
PubMed Link: 32635396
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 32595449
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 32565719
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pleiotropy-Based Decomposition of Genetic Risk Scores: Association and Interaction Analysis for Type 2 Diabetes and CAD.

American Journal Of Human Genetics
DI Chasman, F Giulianini, OV Demler, MS Udler
Publication Date: 2020-05-07

Variant appearance in text: rs11591147
PubMed Link: 32302534
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 32173689
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 32169071
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.

Jama
J Yarmolinsky, CJ Bull, EE Vincent, J Robinson, A Walther, GD Smith, SJ Lewis, CL Relton, RM Martin
Publication Date: 2020-02-18

Variant appearance in text: rs11591147
PubMed Link: 32068819
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 31993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2020-02-21

Variant appearance in text: PCSK9: R46L
PubMed Link: 31949048
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2020-01

Variant appearance in text: rs11591147
PubMed Link: 31873298
Variant Present in the following documents:
  • Main text
View BVdb publication page



Management of Lipid Abnormalities in Patients with Diabetes.

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

Variant appearance in text: rs11591147
PubMed Link: 31758270
Variant Present in the following documents:
  • 11886_2019_Article_1246.pdf
  • aaaaaMain text
View BVdb publication page



Lipid lowering and Alzheimer disease risk: A mendelian randomization study.

Annals Of Neurology
DM Williams, C Finan, AF Schmidt, S Burgess, AD Hingorani
Publication Date: 2020-01

Variant appearance in text: rs11591147
PubMed Link: 31714636
Variant Present in the following documents:
  • Main text
  • ANA-87-30-s001.docx
  • ANA-87-30.pdf
View BVdb publication page



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: rs11591147
PubMed Link: 31708986
Variant Present in the following documents:
  • Main text
  • KITP-16-37944.pdf
View BVdb publication page



Genotyping and Frequency of PCSK9 Variations Among Hypercholesterolemic and Diabetic Subjects.

Indian Journal Of Clinical Biochemistry : Ijcb
E Nuglozeh, MF Fazaludeen, N Hasona, T Malm, LB Mayor, A Al-Hazmi, I Ashankyty
Publication Date: 2019-10

Variant appearance in text: PCSK9: R46L
PubMed Link: 31686731
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: PCSK9: R46L; rs11591147
PubMed Link: 31664920
Variant Present in the following documents:
  • 12872_2019_1187_MOESM1_ESM.xlsx
  • 12872_2019_1187_MOESM2_ESM.pdf
  • 12872_2019_Article_1187.pdf
  • aaaaaMain text
View BVdb publication page



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: rs11591147
PubMed Link: 31636271
Variant Present in the following documents:
  • 41467_2019_12703_MOESM11_ESM.xlsx
  • 41467_2019_12703_MOESM3_ESM.xlsx
  • 41467_2019_12703_MOESM4_ESM.xlsx
  • 41467_2019_12703_MOESM6_ESM.xlsx
  • 41467_2019_12703_MOESM7_ESM.xlsx
  • 41467_2019_12703_MOESM8_ESM.xlsx
  • 41467_2019_Article_12703.pdf
  • aaaaaMain text
View BVdb publication page



Integrating Genome-Wide Association Studies With Pathway Analysis and Gene Expression Analysis Highlights Novel Osteoarthritis Risk Pathways and Genes.

Frontiers In Genetics
F Gao, Y Yao, Y Zhang, J Tian
Publication Date: 2019

Variant appearance in text: rs11591147
PubMed Link: 31572443
Variant Present in the following documents:
  • Table_1.xls
  • Table_2.xls
  • Table_3.xls
View BVdb publication page



Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).

Arteriosclerosis, Thrombosis, And Vascular Biology
A Ben Djoudi Ouadda, MS Gauthier, D Susan-Resiga, E Girard, R Essalmani, M Black, J Marcinkiewicz, D Forget, J Hamelin, A Evagelidis, K Ly, R Day, L Galarneau, F Corbin, B Coulombe, A Çaku, VS Tagliabracci, NG Seidah
Publication Date: 2019-10

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 31553664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications
R Tabassum, JT Rämö, P Ripatti, JT Koskela, M Kurki, J Karjalainen, P Palta, S Hassan, J Nunez-Fontarnau, TTJ Kiiskinen, S Söderlund, N Matikainen, MJ Gerl, MA Surma, C Klose, NO Stitziel, H Laivuori, AS Havulinna, SK Service, V Salomaa, M Pirinen, , M Jauhiainen, MJ Daly, NB Freimer, A Palotie, MR Taskinen, K Simons, S Ripatti
Publication Date: 2019-09-24

Variant appearance in text: rs11591147
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
K Kuchenbaecker, N Telkar, T Reiker, RG Walters, K Lin, A Eriksson, D Gurdasani, A Gilly, L Southam, E Tsafantakis, M Karaleftheri, J Seeley, A Kamali, G Asiki, IY Millwood, M Holmes, H Du, Y Guo, M Kumari, G Dedoussis, L Li, Z Chen, MS Sandhu, E Zeggini,
Publication Date: 2019-09-24

Variant appearance in text: rs11591147
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
  • 41467_2019_12026_MOESM2_ESM.pdf
View BVdb publication page



PCSK9 loss-of-function variants and Lp(a) phenotypes among black US adults.

Journal Of Lipid Research
MT Mefford, SM Marcovina, V Bittner, M Cushman, TM Brown, ME Farkouh, S Tsimikas, KL Monda, JAG López, P Muntner, RS Rosenson
Publication Date: 2019-11

Variant appearance in text: PCSK9: R46L
PubMed Link: 31511398
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genetic Approach to the Association Between PCSK9 and Sepsis.

Jama Network Open
Q Feng, WQ Wei, S Chaugai, BG Carranza Leon, V Kawai, DA Carranza Leon, L Jiang, X Zhong, G Liu, A Ihegword, CM Shaffer, MF Linton, CP Chung, CM Stein
Publication Date: 2019-09-04

Variant appearance in text: rs11591147
PubMed Link: 31509211
Variant Present in the following documents:
  • Main text
  • jamanetwopen-2-e1911130-s001.pdf
View BVdb publication page



Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology.

Nature Communications
Y Tanigawa, J Li, JM Justesen, H Horn, M Aguirre, C DeBoever, C Chang, B Narasimhan, K Lage, T Hastie, CY Park, G Bejerano, E Ingelsson, MA Rivas
Publication Date: 2019-09-06

Variant appearance in text: rs11591147
PubMed Link: 31492854
Variant Present in the following documents:
  • 41467_2019_11953_MOESM6_ESM.xlsx
View BVdb publication page



Characterization of LDLR rs5925 and PCSK9 rs505151 genetic variants frequencies in healthy subjects from northern Chile: Influence on plasma lipid levels.

Journal Of Clinical Laboratory Analysis
C Rojas, H Ramírez, LA Salazar, AM Kalergis, AS Gálvez, J Escobar-Vera
Publication Date: 2019-11

Variant appearance in text: rs11591147
PubMed Link: 31441123
Variant Present in the following documents:
  • JCLA-33-na.pdf
View BVdb publication page



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
PubMed Link: 31437157
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 31407609
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs11591147
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



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
PubMed Link: 31332258
Variant Present in the following documents:
  • 41598_2019_46745_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



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
PubMed Link: 31178716
Variant Present in the following documents:
  • Main text
View BVdb publication page



The association of the PCSK9 rs562556 polymorphism with serum lipids level: a meta-analysis.

Lipids In Health And Disease
J Chuan, Z Qian, Y Zhang, R Tong, M Peng
Publication Date: 2019-04-30

Variant appearance in text: PCSK9: 137G>T; rs11591147
PubMed Link: 31036026
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 31011892
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30899674
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30774981
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11591147
PubMed Link: 30740535
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30726226
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30702993
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

Jama
BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano
Publication Date: 2019-01-29

Variant appearance in text: rs11591147
PubMed Link: 30694319
Variant Present in the following documents:
  • Main text
  • jama-321-364-s001.pdf
View BVdb publication page



Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Nature Communications
TO Kilpeläinen, AR Bentley, R Noordam, YJ Sung, K Schwander, TW Winkler, H Jakupović, DI Chasman, A Manning, I Ntalla, H Aschard, MR Brown, L de Las Fuentes, N Franceschini, X Guo, D Vojinovic, S Aslibekyan, MF Feitosa, M Kho, SK Musani, M Richard, H Wang, Z Wang, TM Bartz, LF Bielak, A Campbell, R Dorajoo, V Fisher, FP Hartwig, ARVR Horimoto, C Li, KK Lohman, J Marten, X Sim, AV Smith, SM Tajuddin, M Alver, M Amini, M Boissel, JF Chai, X Chen, J Divers, E Evangelou, C Gao, M Graff, SE Harris, M He, FC Hsu, AU Jackson, JH Zhao, AT Kraja, B Kühnel, F Laguzzi, LP Lyytikäinen, IM Nolte, R Rauramaa, M Riaz, A Robino, R Rueedi, HM Stringham, F Takeuchi, PJ van der Most, TV Varga, N Verweij, EB Ware, W Wen, X Li, LR Yanek, N Amin, DK Arnett, E Boerwinkle, M Brumat, B Cade, M Canouil, YI Chen, MP Concas, J Connell, R de Mutsert, HJ de Silva, PS de Vries, A Demirkan, J Ding, CB Eaton, JD Faul, Y Friedlander, KP Gabriel, M Ghanbari, F Giulianini, CC Gu, D Gu, TB Harris, J He, S Heikkinen, CK Heng, SC Hunt, MA Ikram, JB Jonas, WP Koh, P Komulainen, JE Krieger, SB Kritchevsky, Z Kutalik, J Kuusisto, CD Langefeld, C Langenberg, LJ Launer, K Leander, RN Lemaitre, CE Lewis, J Liang, , J Liu, R Mägi, A Manichaikul, T Meitinger, A Metspalu, Y Milaneschi, KL Mohlke, TH Mosley, AD Murray, MA Nalls, EK Nang, CP Nelson, S Nona, JM Norris, CV Nwuba, J O'Connell, ND Palmer, GJ Papanicolau, R Pazoki, NL Pedersen, A Peters, PA Peyser, O Polasek, DJ Porteous, A Poveda, OT Raitakari, SS Rich, N Risch, JG Robinson, LM Rose, I Rudan, PJ Schreiner, RA Scott, SS Sidney, M Sims, JA Smith, H Snieder, T Sofer, JM Starr, B Sternfeld, K Strauch, H Tang, KD Taylor, MY Tsai, J Tuomilehto, AG Uitterlinden, MY van der Ende, D van Heemst, T Voortman, M Waldenberger, P Wennberg, G Wilson, YB Xiang, J Yao, C Yu, JM Yuan, W Zhao, AB Zonderman, DM Becker, M Boehnke, DW Bowden, U de Faire, IJ Deary, P Elliott, T Esko, BI Freedman, P Froguel, P Gasparini, C Gieger, N Kato, M Laakso, TA Lakka, T Lehtimäki, PKE Magnusson, AJ Oldehinkel, BWJH Penninx, NJ Samani, XO Shu, P van der Harst, JV Van Vliet-Ostaptchouk, P Vollenweider, LE Wagenknecht, YX Wang, NJ Wareham, DR Weir, T Wu, W Zheng, X Zhu, MK Evans, PW Franks, V Gudnason, C Hayward, BL Horta, TN Kelly, Y Liu, KE North, AC Pereira, PM Ridker, ES Tai, RM van Dam, ER Fox, SLR Kardia, CT Liu, DO Mook-Kanamori, MA Province, S Redline, CM van Duijn, JI Rotter, CB Kooperberg, WJ Gauderman, BM Psaty, K Rice, PB Munroe, M Fornage, LA Cupples, CN Rotimi, AC Morrison, DC Rao, RJF Loos
Publication Date: 2019-01-22

Variant appearance in text: rs11591147
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM11_ESM.xlsx
  • 41467_2018_8008_MOESM13_ESM.xlsx
  • 41467_2018_8008_MOESM8_ESM.xlsx
View BVdb publication page



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
PubMed Link: 30645169
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30524137
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Nature Communications
E Ferkingstad, A Oddsson, S Gretarsdottir, S Benonisdottir, G Thorleifsson, AM Deaton, S Jonsson, OA Stefansson, GL Norddahl, F Zink, GA Arnadottir, B Gunnarsson, GH Halldorsson, A Helgadottir, BO Jensson, RP Kristjansson, G Sveinbjornsson, DA Sverrisson, G Masson, I Olafsson, GI Eyjolfsson, O Sigurdardottir, H Holm, I Jonsdottir, S Olafsson, T Steingrimsdottir, T Rafnar, ES Bjornsson, U Thorsteinsdottir, DF Gudbjartsson, P Sulem, K Stefansson
Publication Date: 2018-11-30

Variant appearance in text: rs11591147
PubMed Link: 30504769
Variant Present in the following documents:
  • 41467_2018_7460_MOESM12_ESM.xlsx
View BVdb publication page



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
PubMed Link: 30482443
Variant Present in the following documents:
  • Main text
  • nihms-1054528.pdf
View BVdb publication page



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
PubMed Link: 30473376
Variant Present in the following documents:
  • Main text
  • mmc1.docx
View BVdb publication page



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: rs11591147
PubMed Link: 30445611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Jama Cardiology
LA Lotta, ID Stewart, SJ Sharp, FR Day, S Burgess, J Luan, N Bowker, L Cai, C Li, LBL Wittemans, ND Kerrison, KT Khaw, MI McCarthy, S O'Rahilly, RA Scott, DB Savage, JRB Perry, C Langenberg, NJ Wareham
Publication Date: 2018-10-01

Variant appearance in text: rs11591147
PubMed Link: 30326043
Variant Present in the following documents:
  • jamacardiol-3-957-s001.pdf
View BVdb publication page



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
PubMed Link: 30310488
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30275531
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30271901
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30205809
Variant Present in the following documents:
  • 12944_2018_859_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



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
PubMed Link: 30066314
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 29997226
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11591147
PubMed Link: 29988570
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11591147
PubMed Link: 29986042
Variant Present in the following documents:
  • Main text
  • pyy060_suppl_supplementary_tables.xlsx
View BVdb publication page



Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Nature Communications
SM Zekavat, S Ruotsalainen, RE Handsaker, M Alver, J Bloom, T Poterba, C Seed, J Ernst, M Chaffin, J Engreitz, GM Peloso, A Manichaikul, C Yang, KA Ryan, M Fu, WC Johnson, M Tsai, M Budoff, RS Vasan, LA Cupples, JI Rotter, SS Rich, W Post, BD Mitchell, A Correa, A Metspalu, JG Wilson, V Salomaa, M Kellis, MJ Daly, BM Neale, S McCarroll, I Surakka, T Esko, A Ganna, S Ripatti, S Kathiresan, P Natarajan,
Publication Date: 2018-07-04

Variant appearance in text: rs11591147
PubMed Link: 29973585
Variant Present in the following documents:
  • 41467_2018_4668_MOESM10_ESM.xlsx
  • 41467_2018_4668_MOESM11_ESM.xlsx
  • 41467_2018_4668_MOESM12_ESM.xlsx
  • 41467_2018_4668_MOESM13_ESM.xlsx
  • 41467_2018_4668_MOESM14_ESM.xlsx
  • 41467_2018_4668_MOESM15_ESM.xlsx
  • 41467_2018_4668_MOESM16_ESM.xlsx
  • 41467_2018_4668_MOESM18_ESM.xlsx
  • 41467_2018_4668_MOESM9_ESM.xlsx
View BVdb publication page



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
PubMed Link: 29748367
Variant Present in the following documents:
  • Main text
View BVdb publication page



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 -