Variant ID: 1-55524237-G-A

NM_174936.3(PCSK9):c.1420G>A;(p.Val474Ile)

This variant was identified in 31 publications




Publications:


A minor allele of the haplotype located in the 19q13 loci is associated with a decreased risk of hyper-LDL-cholesterolemia, and a balanced diet and high protein intake can reduce the risk.

Lipids In Health And Disease
S Park, S Kang
Publication Date: 2020-07-29

Variant appearance in text: rs562556
PMID: 32727492
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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: rs562556
PMID: 32595449
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PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort.

Journal Of The American Heart Association
JP Ferreira, C Xhaard, Z Lamiral, M Borges-Canha, JS Neves, C Dandine-Roulland, E LeFloch, JF Deleuze, D Bacq-Daian, E Bozec, N Girerd, JM Boivin, F Zannad, P Rossignol
Publication Date: 2020-04-07

Variant appearance in text: rs562556
PMID: 32208829
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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: rs562556
PMID: 31708986
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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: rs562556
PMID: 31509211
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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine
MC Barboza-Cerda, O Barboza-Quintana, G Martínez-Aldape, R Garza-Guajardo, MA Déctor
Publication Date: 2019-09

Variant appearance in text: rs562556
PMID: 31397093
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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: V474I; rs562556
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: 1420G>A; rs562556
PMID: 31036026
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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: rs562556
PMID: 30645169
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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: rs562556
PMID: 30473376
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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: V474I; rs562556
PMID: 29997226
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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: rs562556
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: rs562556
PMID: 29447211
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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: rs562556
PMID: 29340220
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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: V474I; rs562556
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: PCSK9: V474I; rs562556
PMID: 29020353
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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: rs562556
PMID: 28438747
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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: rs562556
PMID: 26902539
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LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.

Plos One
E Ochoa, M Iriondo, C Manzano, A Fullaondo, I Villar, G Ruiz-Irastorza, AM Zubiaga, A Estonba
Publication Date: 2016

Variant appearance in text: rs562556
PMID: 26820623
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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: rs562556
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: V474I; rs562556
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: rs562556
PMID: 25266949
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Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.

Oman Medical Journal
K Al-Waili, WA Al-Zidi, AR Al-Abri, K Al-Rasadi, HA Al-Sabti, K Shah, A Al-Futaisi, I Al-Zakwani, Y Banerjee
Publication Date: 2013-01

Variant appearance in text: rs562556
PMID: 23386946
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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: rs562556
PMID: 23300213
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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: rs562556
PMID: 20154611
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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: V474I
PMID: 19351729
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Genetic variation in an individual human exome.

Plos Genetics
PC Ng, S Levy, J Huang, TB Stockwell, BP Walenz, K Li, N Axelrod, DA Busam, RL Strausberg, JC Venter
Publication Date: 2008-08-15

Variant appearance in text: PCSK9: V474I; rs562556
PMID: 18704161
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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: rs562556
PMID: 18300938
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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: rs562556
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: rs562556
PMID: 17142622
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1420G>A p.Val474Ile missense_variant 9/12 -
ENST00000490692.1 n.2144G>A - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.768G>A p.Pro256= synonymous_variant 7/10 -
NM_174936.4 c.1420G>A p.Val474Ile missense_variant 9/12 -
NR_110451.1 n.1027G>A - non_coding_transcript_exon_variant 7/10 -