Variant ID: 1-55529187-G-A

NM_174936.3(PCSK9):c.2009G>A;(p.Gly670Glu)

This variant was identified in 51 publications




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: rs505151
PMID: 32595449
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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: rs505151
PMID: 31509211
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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: rs505151
PMID: 31441123
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Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.

European Heart Journal
HD Jang, SE Lee, J Yang, HC Lee, D Shin, H Lee, J Lee, S Jin, S Kim, SJ Lee, J You, HW Park, KY Nam, SH Lee, SW Park, JS Kim, SY Kim, YW Kwon, SH Kwak, HM Yang, HS Kim
Publication Date: 2019-08-16

Variant appearance in text: PCSK9: G670E
PMID: 31419281
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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: G670E; rs505151
PMID: 31332258
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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: 2009G>A; rs505151
PMID: 31036026
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Variations of the proprotein convertase subtilisin/kexin type 9 gene in coronary artery disease.

The Journal Of International Medical Research
SM Chiang, YS Yang, SF Yang, CF Tsai, KC Ueng
Publication Date: 2019-04-05

Variant appearance in text: rs505151
PMID: 30947598
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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: rs505151
PMID: 30205809
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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: rs505151
PMID: 29997226
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Disease burden and the role of pharmacogenomics in African populations.

Global Health, Epidemiology And Genomics
KL Mpye, A Matimba, K Dzobo, S Chirikure, A Wonkam, C Dandara
Publication Date: 2017

Variant appearance in text: rs505151
PMID: 29868213
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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: G670E; rs505151
PMID: 29510719
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Malaria severity: Possible influence of the E670G PCSK9 polymorphism: A preliminary case-control study in Malian children.

Plos One
C Arama, I Diarra, B Kouriba, F Sirois, O Fedoryak, MA Thera, D Coulibaly, KE Lyke, CV Plowe, M Chrétien, OK Doumbo, M Mbikay
Publication Date: 2018

Variant appearance in text: rs505151
PMID: 29447211
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Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
CJ Lee, Y Lee, S Park, SM Kang, Y Jang, JH Lee, SH Lee
Publication Date: 2017

Variant appearance in text: PCSK9: G670E; rs505151
PMID: 29036232
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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: rs505151
PMID: 29020353
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Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China.

Neural Regeneration Research
DF Han, JH Ma, CG Hao, Tuerhong Tuerxun, L Du, XN Zhang
Publication Date: 2017-08

Variant appearance in text: rs505151
PMID: 28966647
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Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.

Journal Of Clinical And Diagnostic Research : Jcdr
E Nuglozeh
Publication Date: 2017-06

Variant appearance in text: PCSK9: G670E
PMID: 28764195
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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: rs505151
PMID: 28606094
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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: rs505151
PMID: 28438747
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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: rs505151
PMID: 27466198
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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: rs505151
PMID: 26902539
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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: rs505151
PMID: 26802169
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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: rs505151
PMID: 26744084
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The Influence of OLR1 and PCSK9 Gene Polymorphisms on Ischemic Stroke: Evidence from a Meta-Analysis.

Scientific Reports
A Au, LR Griffiths, KK Cheng, C Wee Kooi, L Irene, L Keat Wei
Publication Date: 2015-12-15

Variant appearance in text: rs505151
PMID: 26666837
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The associations between proprotein convertase subtilisin/kexin type 9 E670G polymorphism and the risk of coronary artery disease and serum lipid levels: a meta-analysis.

Lipids In Health And Disease
G Cai, B Zhang, G Shi, W Weng, C Ma, Y Song, J Zhang
Publication Date: 2015-11-17

Variant appearance in text: rs505151
PMID: 26576960
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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: rs505151
PMID: 26493351
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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: rs505151
PMID: 25904937
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Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: rs505151
PMID: 25412415
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PCSK9 is a critical regulator of the innate immune response and septic shock outcome.

Science Translational Medicine
KR Walley, KR Thain, JA Russell, MP Reilly, NJ Meyer, JF Ferguson, JD Christie, TA Nakada, CD Fjell, SA Thair, MS Cirstea, JH Boyd
Publication Date: 2014-10-15

Variant appearance in text: PCSK9: G670E; rs505151
PMID: 25320235
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Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
D Han, J Ma, X Zhang, J Cai, J Li, T Tuerxun, C Hao, L Du, J Lei
Publication Date: 2014-09-30

Variant appearance in text: rs505151
PMID: 25266949
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Evaluation of the effect of genetic variation on the relationship between statins, cardiovascular disease and cancer.

International Journal Of Molecular Epidemiology And Genetics
P Desai, A Jay, C Bock, G Dyson, T Okwuosa, MS Simon
Publication Date: 2013-11-28

Variant appearance in text: rs505151
PMID: 24319534
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Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current Genomics
A Jelassi, M Najah, A Slimani, I Jguirim, MN Slimane, M Varret
Publication Date: 2013-03

Variant appearance in text: PCSK9: 2009G>A; Gly670Glu
PMID: 23997648
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Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American Journal Of Human Genetics
MA Coram, Q Duan, TJ Hoffmann, T Thornton, JW Knowles, NA Johnson, HM Ochs-Balcom, TA Donlon, LW Martin, CB Eaton, JG Robinson, NJ Risch, X Zhu, C Kooperberg, Y Li, AP Reiner, H Tang
Publication Date: 2013-06-06

Variant appearance in text: PCSK9: Gly670Glu; rs505151
PMID: 23726366
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Proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism interacts with alcohol consumption to modulate serum lipid levels.

International Journal Of Medical Sciences
LH Aung, RX Yin, DF Wu, XL Cao, XJ Hu, L Miao
Publication Date: 2013

Variant appearance in text: rs505151
PMID: 23329883
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PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Journal Of Lipid Research
I Postmus, S Trompet, AJ de Craen, BM Buckley, I Ford, DJ Stott, N Sattar, PE Slagboom, RG Westendorp, JW Jukema
Publication Date: 2013-02

Variant appearance in text: rs505151
PMID: 23300213
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Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

Plos One
CC Elbers, Y Guo, V Tragante, EP van Iperen, MB Lanktree, BA Castillo, F Chen, LR Yanek, MK Wojczynski, YR Li, B Ferwerda, CM Ballantyne, SG Buxbaum, YD Chen, WM Chen, LA Cupples, M Cushman, Y Duan, D Duggan, MK Evans, JK Fernandes, M Fornage, M Garcia, WT Garvey, N Glazer, F Gomez, TB Harris, I Halder, VJ Howard, MF Keller, MI Kamboh, C Kooperberg, SB Kritchevsky, A LaCroix, K Liu, Y Liu, K Musunuru, AB Newman, NC Onland-Moret, J Ordovas, I Peter, W Post, S Redline, SE Reis, R Saxena, PJ Schreiner, KA Volcik, X Wang, S Yusuf, AB Zonderland, SS Anand, DM Becker, B Psaty, DJ Rader, AP Reiner, SS Rich, JI Rotter, MM Sale, MY Tsai, IB Borecki, RA Hegele, S Kathiresan, MA Nalls, HA Taylor, H Hakonarson, S Sivapalaratnam, FW Asselbergs, F Drenos, JG Wilson, BJ Keating
Publication Date: 2012

Variant appearance in text: rs505151
PMID: 23236364
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Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels.

International Journal Of Molecular Sciences
RX Yin, DF Wu, LH Aung, TT Yan, XL Cao, XJ Long, L Miao, WY Liu, L Zhang, M Li
Publication Date: 2012

Variant appearance in text: rs505151
PMID: 23109900
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Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels.

Cardiovascular Diabetology
RX Yin, DF Wu, L Miao, LH Aung, XL Cao, TT Yan, XJ Long, WY Liu, L Zhang, M Li
Publication Date: 2012-10-08

Variant appearance in text: rs505151
PMID: 23039238
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Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One
K Musunuru, SP Romaine, G Lettre, JG Wilson, KA Volcik, MY Tsai, HA Taylor, PJ Schreiner, JI Rotter, SS Rich, S Redline, BM Psaty, GJ Papanicolaou, JM Ordovas, K Liu, RM Krauss, NL Glazer, SB Gabriel, M Fornage, LA Cupples, SG Buxbaum, E Boerwinkle, CM Ballantyne, S Kathiresan, DJ Rader
Publication Date: 2012

Variant appearance in text: rs505151
PMID: 22629316
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Interactions of several lipid-related gene polymorphisms and cigarette smoking on blood pressure levels.

International Journal Of Biological Sciences
RX Yin, DF Wu, JZ Wu, XL Cao, LH Aung, L Miao, XJ Long, WY Liu, L Zhang, M Li
Publication Date: 2012

Variant appearance in text: rs505151
PMID: 22606049
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: 2009G>A; rs505151
PMID: 21862702
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Genetic variability within the cholesterol lowering pathway and the effectiveness of statins in reducing the risk of MI.

Atherosclerosis
BJ Peters, H Pett, OH Klungel, BH Stricker, BM Psaty, NL Glazer, KL Wiggins, JC Bis, A de Boer, AH Maitland-van der Zee
Publication Date: 2011-08

Variant appearance in text: rs505151
PMID: 21741043
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The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Lipids In Health And Disease
LH Aung, RX Yin, L Miao, XJ Hu, TT Yan, XL Cao, DF Wu, Q Li, SL Pan, JZ Wu
Publication Date: 2011-01-13

Variant appearance in text: rs505151
PMID: 21232153
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Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Journal Of Lipid Research
I Guella, R Asselta, D Ardissino, PA Merlini, F Peyvandi, S Kathiresan, PM Mannucci, M Tubaro, S Duga
Publication Date: 2010-11

Variant appearance in text: rs505151
PMID: 20699424
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Candidate gene association resource (CARe): design, methods, and proof of concept.

Circulation. Cardiovascular Genetics
K Musunuru, G Lettre, T Young, DN Farlow, JP Pirruccello, KG Ejebe, BJ Keating, Q Yang, MH Chen, N Lapchyk, A Crenshaw, L Ziaugra, A Rachupka, EJ Benjamin, LA Cupples, M Fornage, ER Fox, SR Heckbert, JN Hirschhorn, C Newton-Cheh, MM Nizzari, DN Paltoo, GJ Papanicolaou, SR Patel, BM Psaty, DJ Rader, S Redline, SS Rich, JI Rotter, HA Taylor, RP Tracy, RS Vasan, JG Wilson, S Kathiresan, RR Fabsitz, E Boerwinkle, SB Gabriel,
Publication Date: 2010-06

Variant appearance in text: rs505151
PMID: 20400780
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Adaptive genetic variation and heart disease risk.

Current Opinion In Lipidology
LD Parnell, YC Lee, CQ Lai
Publication Date: 2010-04

Variant appearance in text: rs505151
PMID: 20154611
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Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

Circulation. Cardiovascular Genetics
CC Huang, M Fornage, DM Lloyd-Jones, GS Wei, E Boerwinkle, K Liu
Publication Date: 2009-08

Variant appearance in text: rs505151
PMID: 20031607
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Genetic and metabolic determinants of plasma PCSK9 levels.

The Journal Of Clinical Endocrinology And Metabolism
SG Lakoski, TA Lagace, JC Cohen, JD Horton, HH Hobbs
Publication Date: 2009-07

Variant appearance in text: PCSK9: G670E
PMID: 19351729
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Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
K Ding, IJ Kullo
Publication Date: 2008-03

Variant appearance in text: rs505151
PMID: 18300938
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Genetic variation at the PCSK9 locus moderately lowers low-density lipoprotein cholesterol levels, but does not significantly lower vascular disease risk in an elderly population.

Atherosclerosis
E Polisecki, I Peter, M Robertson, AD McMahon, I Ford, C Packard, J Shepherd, JW Jukema, GJ Blauw, RG Westendorp, AJ de Craen, S Trompet, BM Buckley, MB Murphy, JM Ordovas, EJ Schaefer,
Publication Date: 2008-09

Variant appearance in text: rs505151
PMID: 18262190
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Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
K Ding, SJ McDonough, IJ Kullo
Publication Date: 2007-10-31

Variant appearance in text: rs505151
PMID: 17971861
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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: rs505151
PMID: 17142622
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2009G>A p.Gly670Glu missense_variant 12/12 -
ENST00000490692.1 n.2555G>A - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2009G>A p.Gly670Glu missense_variant 12/12 -
NR_110451.1 n.1616G>A - non_coding_transcript_exon_variant 10/10 -