Variant ID: 1-55524237-G-A

NM_174936.3(PCSK9):c.1420G>A;(p.V474I)

This variant was identified in 49 publications

View GRCh38 version.




Publications:


The Relationship of Circulating Proprotein Convertase Subtilisin/Kexin Type 9 With TSH and Lipid Profile in Newly Diagnosed Patients With Subclinical and Overt Hypothyroidism.

Clinical Medicine Insights. Endocrinology And Diabetes
Sadik, Noha Adly NA; Rashed, Laila Ahmed LA; El-Sawy, Shereen Sadik SS
Publication Date: 2022

Variant appearance in text: rs562556
PubMed Link: 35494422
Variant Present in the following documents:
  • 10.1177_11795514221093317.pdf
View BVdb publication page



PCSK9 Plasma Levels Are Associated with Mechanical Vascular Impairment in Familial Hypercholesterolemia Subjects without a History of Atherosclerotic Cardiovascular Disease: Results of Six-Month Add-On PCSK9 Inhibitor Therapy.

Biomolecules
Toscano, Arianna A; Cinquegrani, Maria M; Scuruchi, Michele M; Di Pino, Antonino A; Piro, Salvatore S; Ferrara, Viviana V; Morace, Carmela C; Lo Gullo, Alberto A; Imbalzano, Egidio E; Purrello, Francesco F; Squadrito, Giovanni G; Scicali, Roberto R; Mandraffino, Giuseppe G
Publication Date: 2022-04-09

Variant appearance in text: rs562556
PubMed Link: 35454151
Variant Present in the following documents:
  • biomolecules-12-00562.pdf
View BVdb publication page



Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.

Clinical And Translational Medicine
Zhou, Yingchao Y; Xie, Qiang Q; Pan, Silin S; Wu, Jianfei J; Wang, Xiangyi X; Cao, Zhubing Z; Wang, Mengru M; Zha, Lingfeng L; Zhou, Mengchen M; Li, Qianqian Q; Wang, Qing Q; Cheng, Xiang X; Wu, Gang G; Tu, Xin X
Publication Date: 2022-03

Variant appearance in text: PCSK9: 1420G>A; Val474Ile
PubMed Link: 35343078
Variant Present in the following documents:
  • CTM2-12-e773-s001.pdf
View BVdb publication page



Insight into the Evolving Role of PCSK9.

Metabolites
Maligłówka, Mateusz M; Kosowski, Michał M; Hachuła, Marcin M; Cyrnek, Marcin M; Bułdak, Łukasz Ł; Basiak, Marcin M; Bołdys, Aleksandra A; Machnik, Grzegorz G; Bułdak, Rafał Jakub RJ; Okopień, Bogusław B
Publication Date: 2022-03-17

Variant appearance in text: rs562556
PubMed Link: 35323699
Variant Present in the following documents:
  • metabolites-12-00256.pdf
View BVdb publication page



Investigating the effects of statins on ischemic heart disease allowing for effects on body mass index: a Mendelian randomization study.

Scientific Reports
Li, Shun S; Schooling, C M CM
Publication Date: 2022-03-03

Variant appearance in text: rs562556
PubMed Link: 35241713
Variant Present in the following documents:
  • 41598_2022_Article_7344.pdf
View BVdb publication page



Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH Registry?

Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2021-12-04

Variant appearance in text: PCSK9: 1420G>A
PubMed Link: 34875256
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: PCSK9: V474I
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls
View BVdb publication page



Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Publication Date: 2021-09-24

Variant appearance in text: rs562556
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08

Variant appearance in text: rs562556
PubMed Link: 34356856
Variant Present in the following documents:
  • biomedicines-09-00793.pdf
View BVdb publication page



Polymorphisms of rs2483205 and rs562556 in the PCSK9 gene are associated with coronary artery disease and cardiovascular risk factors.

Scientific Reports
Gai, Min-Tao MT; Adi, Dilare D; Chen, Xiao-Cui XC; Liu, Fen F; Xie, Xiang X; Yang, Yi-Ning YN; Gao, Xiao-Ming XM; Ma, Xiang X; Fu, Zhen-Yan ZY; Ma, Yi-Tong YT; Chen, Bang-Dang BD
Publication Date: 2021-06-01

Variant appearance in text: rs562556
PubMed Link: 34075144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study.

Plos Genetics
Gormley, Mark M; Yarmolinsky, James J; Dudding, Tom T; Burrows, Kimberley K; Martin, Richard M RM; Thomas, Steven S; Tyrrell, Jessica J; Brennan, Paul P; Pring, Miranda M; Boccia, Stefania S; Olshan, Andrew F AF; Diergaarde, Brenda B; Hung, Rayjean J RJ; Liu, Geoffrey G; Legge, Danny D; Tajara, Eloiza H EH; Severino, Patricia P; Lacko, Martin M; Ness, Andrew R AR; Davey Smith, George G; Vincent, Emma E EE; Richmond, Rebecca C RC
Publication Date: 2021-04

Variant appearance in text: rs562556
PubMed Link: 33886544
Variant Present in the following documents:
  • Main text
  • pgen.1009525.s015.pdf
  • pgen.1009525.s018.pdf
  • pgen.1009525.pdf
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: PCSK9: 1420G>A; V474I; rs562556
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx
View BVdb publication page



Azathioprine antagonizes aberrantly elevated lipid metabolism and induces apoptosis in glioblastoma.

Iscience
Nam, Hye Jin HJ; Kim, Young Eun YE; Moon, Byoung-San BS; Kim, Hyun Young HY; Jung, Daeyoung D; Choi, Seungho S; Jang, Jeong Woon JW; Nam, Do-Hyun DH; Cho, Heeyeong H
Publication Date: 2021-03-19

Variant appearance in text: PCSK9: V474I
PubMed Link: 33748720
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



PCSK9 genetic variants and cognitive abilities: a large-scale Mendelian randomization study.

Archives Of Medical Science : Ams
Lyall, Donald M DM; Ward, Joey J; Banach, Maciej M; Smith, George Davey GD; Gill, Jason G JG; Pell, Jill P JP; Holmes, Michael V MV; Sattar, Naveed N
Publication Date: 2021

Variant appearance in text: rs562556
PubMed Link: 33488877
Variant Present in the following documents:
  • Main text
  • AMS-17-1-127226.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs562556
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls
View BVdb publication page



Search for Reliable Circulating Biomarkers to Predict Carotid Plaque Vulnerability.

International Journal Of Molecular Sciences
Puig, Núria N; Jiménez-Xarrié, Elena E; Camps-Renom, Pol P; Benitez, Sonia S
Publication Date: 2020-11-03

Variant appearance in text: rs562556
PubMed Link: 33153204
Variant Present in the following documents:
  • Main text
  • ijms-21-08236.pdf
View BVdb publication page



Association of the rs562556 PCSK9 Gene Polymorphism with Reduced Mortality in Severe Malaria among Malian Children.

The Canadian Journal Of Infectious Diseases & Medical Microbiology = Journal Canadien Des Maladies Infectieuses Et De La Microbiologie Medicale
Fedoryak, Olesya O; Arama, Charles C; Diarra, Issa I; Kouriba, Bouréma B; Chrétien, Michel M; Mbikay, Majambu M
Publication Date: 2020

Variant appearance in text: rs562556
PubMed Link: 33029265
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating pleiotropic effects of statins on ischemic heart disease in the UK Biobank using Mendelian randomisation.

Elife
Schooling, C M CM; Zhao, J V JV; Au Yeung, S L SL; Leung, G M GM
Publication Date: 2020-08-25

Variant appearance in text: rs562556
PubMed Link: 32838838
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proprotein Convertase Subtilisin/Kexin Type 9 Loss-of-Function Is Detrimental to the Juvenile Host With Septic Shock.

Critical Care Medicine
Atreya, Mihir R MR; Whitacre, Brynne E BE; Cvijanovich, Natalie Z NZ; Bigham, Michael T MT; Thomas, Neal J NJ; Schwarz, Adam J AJ; Weiss, Scott L SL; Fitzgerald, Julie C JC; Allen, Geoffrey L GL; Lutfi, Riad R; Nowak, Jeffrey E JE; Quasney, Michael W MW; Shah, Amy S AS; Wong, Hector R HR
Publication Date: 2020-10

Variant appearance in text: PCSK9: V474I; rs562556
PubMed Link: 32769621
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Park, Sunmin S; Kang, Suna S
Publication Date: 2020-07-29

Variant appearance in text: rs562556
PubMed Link: 32727492
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
O'Connell, Emma M EM; Lohoff, Falk W FW
Publication Date: 2020

Variant appearance in text: rs562556
PubMed Link: 32595449
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort.

Journal Of The American Heart Association
Ferreira, João Pedro JP; Xhaard, Constance C; Lamiral, Zohra Z; Borges-Canha, Marta M; Neves, João Sérgio JS; Dandine-Roulland, Claire C; LeFloch, Edith E; Deleuze, Jean-François JF; Bacq-Daian, Delphine D; Bozec, Erwan E; Girerd, Nicolas N; Boivin, Jean-Marc JM; Zannad, Faiez F; Rossignol, Patrick P
Publication Date: 2020-04-07

Variant appearance in text: rs562556
PubMed Link: 32208829
Variant Present in the following documents:
  • Main text
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
Grobelna, Malwina K MK; Strauss, Ewa E; Krasiński, Zbigniew Z
Publication Date: 2019-10

Variant appearance in text: rs562556
PubMed Link: 31708986
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
Feng, QiPing Q; Wei, Wei-Qi WQ; Chaugai, Sandip S; Carranza Leon, Barbara G BG; Kawai, Vivian V; Carranza Leon, Daniel A DA; Jiang, Lan L; Zhong, Xue X; Liu, Ge G; Ihegword, Andrea A; Shaffer, Christian M CM; Linton, MacRae F MF; Chung, Cecilia P CP; Stein, C Michael CM
Publication Date: 2019-09-04

Variant appearance in text: rs562556
PubMed Link: 31509211
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09

Variant appearance in text: rs562556
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
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
Leung, Alex K K AKK; Genga, Kelly Roveran KR; Topchiy, Elena E; Cirstea, Mihai M; Shimada, Tadanaga T; Fjell, Chris C; Russell, James A JA; Boyd, John H JH; Walley, Keith R KR
Publication Date: 2019-07-22

Variant appearance in text: PCSK9: V474I; rs562556
PubMed Link: 31332258
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
Chuan, Junlan J; Qian, Zhengxu Z; Zhang, Yuan Y; Tong, Rongsheng R; Peng, Min M
Publication Date: 2019-04-30

Variant appearance in text: PCSK9: 1420G>A; rs562556
PubMed Link: 31036026
Variant Present in the following documents:
  • Main text
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
Brumpton, Ben M BM; Fritsche, Lars G LG; Zheng, Jie J; Nielsen, Jonas Bille JB; Mannila, Maria M; Surakka, Ida I; Rasheed, Humaira H; Vie, Gunnhild Åberge GÅ; Graham, Sarah E SE; Gabrielsen, Maiken Elvestad ME; Laugsand, Lars Erik LE; Aukrust, Pål P; Vatten, Lars Johan LJ; Damås, Jan Kristian JK; Ueland, Thor T; Janszky, Imre I; Zwart, John-Anker JA; Van't Hooft, Ferdinand M FM; Seidah, Nabil Georges NG; Hveem, Kristian K; Willer, Cristen C; Smith, George Davey GD; Åsvold, Bjørn Olav BO; ,
Publication Date: 2019-01

Variant appearance in text: rs562556
PubMed Link: 30645169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of PCSK9 loss-of-function genotype on 1-year mortality and recurrent infection in sepsis survivors.

Ebiomedicine
Genga, Kelly Roveran KR; Lo, Cody C; Cirstea, Mihai S MS; Leitao Filho, Fernando Sergio FS; Walley, Keith R KR; Russell, James A JA; Linder, Adam A; Francis, Gordon A GA; Boyd, John H JH
Publication Date: 2018-12

Variant appearance in text: rs562556
PubMed Link: 30473376
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
Rao, Abhiram S AS; Lindholm, Daniel D; Rivas, Manuel A MA; Knowles, Joshua W JW; Montgomery, Stephen B SB; Ingelsson, Erik E
Publication Date: 2018-07

Variant appearance in text: PCSK9: V474I; rs562556
PubMed Link: 29997226
Variant Present in the following documents:
  • Main text
View BVdb publication page



Survival benefit of a low ratio of visceral to subcutaneous adipose tissue depends on LDL clearance versus production in sepsis.

Critical Care (London, England)
Lee, Joseph G H JGH; Genga, Kelly R KR; Pisitsak, Chawika C; Boyd, John H JH; Leung, Alex K K AKK; Russell, James A JA; Walley, Keith R KR
Publication Date: 2018-03-06

Variant appearance in text: rs562556
PubMed Link: 29510719
Variant Present in the following documents:
  • Main text
View BVdb publication page



Malaria severity: Possible influence of the E670G PCSK9 polymorphism: A preliminary case-control study in Malian children.

Plos One
Arama, Charles C; Diarra, Issa I; Kouriba, Bourèma B; Sirois, Francine F; Fedoryak, Olesya O; Thera, Mahamadou A MA; Coulibaly, Drissa D; Lyke, Kirsten E KE; Plowe, Christopher V CV; Chrétien, Michel M; Doumbo, Ogobara K OK; Mbikay, Majambu M
Publication Date: 2018

Variant appearance in text: rs562556
PubMed Link: 29447211
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multilocus Analysis of Genetic Susceptibility to Myocardial Infarction in Russians: Replication Study.

Acta Naturae
Kukava, N G NG; Titov, B V BV; Osmak, G J GJ; Matveeva, N A NA; Kulakova, O G OG; Favorov, A V AV; Shakhnovich, R M RM; Ruda, M Ya MY; Favorova, O O OO
Publication Date: 2017

Variant appearance in text: rs562556
PubMed Link: 29340220
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2017

Variant appearance in text: PCSK9: V474I; rs562556
PubMed Link: 29036232
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential effects of PCSK9 variants on risk of coronary disease and ischaemic stroke.

European Heart Journal
Hopewell, Jemma C JC; Malik, Rainer R; Valdés-Márquez, Elsa E; Worrall, Bradford B BB; Collins, Rory R; ,
Publication Date: 2018-02-01

Variant appearance in text: PCSK9: V474I; rs562556
PubMed Link: 29020353
Variant Present in the following documents:
  • Main text
View BVdb publication page



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.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: rs562556
PubMed Link: 28438747
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.

The Pharmacogenomics Journal
Feng, Q Q; Wei, W Q WQ; Chung, C P CP; Levinson, R T RT; Bastarache, L L; Denny, J C JC; Stein, C M CM
Publication Date: 2017-03

Variant appearance in text: rs562556
PubMed Link: 26902539
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.

Plos One
Ochoa, Eguzkine E; Iriondo, Mikel M; Manzano, Carmen C; Fullaondo, Asier A; Villar, Irama I; Ruiz-Irastorza, Guillermo G; Zubiaga, Ana M AM; Estonba, Andone A
Publication Date: 2016

Variant appearance in text: rs562556
PubMed Link: 26820623
Variant Present in the following documents:
  • Main text
View BVdb publication page



Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
Tsai, Ching-Wei CW; North, Kari E KE; Tin, Adrienne A; Haack, Karin K; Franceschini, Nora N; Saroja Voruganti, V V; Laston, Sandy S; Zhang, Ying Y; Best, Lyle G LG; MacCluer, Jean W JW; Beaty, Terri H TH; Navas-Acien, Ana A; Kao, W H Linda WH; Howard, Barbara V BV
Publication Date: 2015-02

Variant appearance in text: rs562556
PubMed Link: 25412415
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 is a critical regulator of the innate immune response and septic shock outcome.

Science Translational Medicine
Walley, Keith R KR; Thain, Katherine R KR; Russell, James A JA; Reilly, Muredach P MP; Meyer, Nuala J NJ; Ferguson, Jane F JF; Christie, Jason D JD; Nakada, Taka-aki TA; Fjell, Chris D CD; Thair, Simone A SA; Cirstea, Mihai S MS; Boyd, John H JH
Publication Date: 2014-10-15

Variant appearance in text: PCSK9: V474I; rs562556
PubMed Link: 25320235
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Han, Dengfeng D; Ma, Jianhua J; Zhang, Xiaoning X; Cai, Jian J; Li, Jinlan J; Tuerxun, Tuerhong T; Hao, Chenguang C; Du, Lei L; Lei, Jing J
Publication Date: 2014-09-30

Variant appearance in text: rs562556
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.

Oman Medical Journal
Al-Waili, Khalid K; Al-Zidi, Ward Al-Muna WA; Al-Abri, Abdul Rahim AR; Al-Rasadi, Khalid K; Al-Sabti, Hilal Ali HA; Shah, Karna K; Al-Futaisi, Abdullah A; Al-Zakwani, Ibrahim I; Banerjee, Yajnavalka Y
Publication Date: 2013-01

Variant appearance in text: rs562556
PubMed Link: 23386946
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Postmus, Iris I; Trompet, Stella S; de Craen, Anton J M AJ; Buckley, Brendan M BM; Ford, Ian I; Stott, David J DJ; Sattar, Naveed N; Slagboom, P Eline PE; Westendorp, Rudi G J RG; Jukema, J Wouter JW
Publication Date: 2013-02

Variant appearance in text: rs562556
PubMed Link: 23300213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptive genetic variation and heart disease risk.

Current Opinion In Lipidology
Parnell, Laurence D LD; Lee, Yu-Chi YC; Lai, Chao-Qiang CQ
Publication Date: 2010-04

Variant appearance in text: rs562556
PubMed Link: 20154611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and metabolic determinants of plasma PCSK9 levels.

The Journal Of Clinical Endocrinology And Metabolism
Lakoski, Susan G SG; Lagace, Thomas A TA; Cohen, Jonathan C JC; Horton, Jay D JD; Hobbs, Helen H HH
Publication Date: 2009-07

Variant appearance in text: PCSK9: V474I
PubMed Link: 19351729
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in an individual human exome.

Plos Genetics
Ng, Pauline C PC; Levy, Samuel S; Huang, Jiaqi J; Stockwell, Timothy B TB; Walenz, Brian P BP; Li, Kelvin K; Axelrod, Nelson N; Busam, Dana A DA; Strausberg, Robert L RL; Venter, J Craig JC
Publication Date: 2008-08-15

Variant appearance in text: PCSK9: V474I; rs562556
PubMed Link: 18704161
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
Ding, Keyue K; Kullo, Iftikhar J IJ
Publication Date: 2008-03

Variant appearance in text: rs562556
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
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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
Ding, Keyue K; McDonough, Samantha J SJ; Kullo, Iftikhar J IJ
Publication Date: 2007-10-31

Variant appearance in text: rs562556
PubMed Link: 17971861
Variant Present in the following documents:
  • Main text
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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
Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,
Publication Date: 2006-12

Variant appearance in text: rs562556
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page