Variant ID: 1-55529187-G-A

NM_174936.3(PCSK9):c.2009G>A;(p.G670E)

This variant was identified in 73 publications

View GRCh38 version.




Publications:


Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects.

Frontiers In Genetics
Kim, Serim S; Seo, Jong Do JD; Yun, Yeo-Min YM; Kim, Hanah H; Kim, Tae-Eun TE; Lee, Taeheon T; Lee, Tae-Rim TR; Lee, Jun Hyung JH; Cho, Eun-Hae EH; Ki, Chang-Seok CS
Publication Date: 2022

Variant appearance in text: PCSK9: 2009G>A; rs505151
PubMed Link: 35664336
Variant Present in the following documents:
  • DataSheet1.pdf
View BVdb publication page



The R93C Variant of PCSK9 Reduces the Risk of Premature MI in a Chinese Han Population.

Frontiers In Genetics
Yang, Lincheng L; Pu, Tian T; Zhang, Yan Y; Yan, Hua H; Yu, Haiyi H; Gao, Wei W
Publication Date: 2022

Variant appearance in text: rs505151
PubMed Link: 35480303
Variant Present in the following documents:
  • fgene-13-875269.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: 2009G>A; Gly670Glu
PubMed Link: 35343078
Variant Present in the following documents:
  • CTM2-12-e773-s001.pdf
View BVdb publication page



Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of hepatic steatosis after liver transplantation: a cross-sectional study.

Bmc Gastroenterology
Eshraghian, Ahad A; Moasser, Elham E; Azarpira, Negar N; Fattahi, Mohammad Reza MR; Nikeghbalian, Saman S; Malek-Hosseini, Seyed Ali SA; Geramizadeh, Bita B
Publication Date: 2021-12-07

Variant appearance in text: rs505151
PubMed Link: 34876018
Variant Present in the following documents:
  • Main text
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: G670E
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls
View BVdb publication page



Genome-Wide Association of Proprotein Convertase Subtilisin/Kexin Type 9 Plasma Levels in the ELSA-Brasil Study.

Frontiers In Genetics
Bensenor, Isabela I; Padilha, Kallyandra K; Lima, Isabella Ramos IR; Santos, Raul Dias RD; Lambert, Gilles G; Ramin-Mangata, Stéphane S; Bittencourt, Marcio S MS; Goulart, Alessandra C AC; Santos, Itamar S IS; Mill, Jose G JG; Krieger, Jose E JE; Lotufo, Paulo A PA; Pereira, Alexandre C AC
Publication Date: 2021

Variant appearance in text: rs505151
PubMed Link: 34659352
Variant Present in the following documents:
  • Main text
  • fgene-12-728526.pdf
View BVdb publication page



Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot Study.

Frontiers In Genetics
Gálvez, Anita S AS; Ramírez, Hugo H; Placencia, Pablo P; Rojas, Claudio C; Urzúa, Ximena X; Kalergis, Alexis M AM; Salazar, Luis A LA; Escobar-Vera, Jorge J
Publication Date: 2021

Variant appearance in text: rs505151
PubMed Link: 34616421
Variant Present in the following documents:
  • fgene-12-640956.pdf
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: rs505151
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



Association of Lipoprotein (a) variants with risk of cardiovascular disease: a Mendelian randomization study.

Lipids In Health And Disease
Xia, Juan J; Guo, Chunyue C; Liu, Kuo K; Xie, Yunyi Y; Cao, Han H; Peng, Wenjuan W; Sun, Yanyan Y; Liu, Xiaohui X; Li, Bingxiao B; Zhang, Ling L
Publication Date: 2021-06-01

Variant appearance in text: rs505151
PubMed Link: 34074296
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Biology and Its Role in Atherothrombosis.

International Journal Of Molecular Sciences
Barale, Cristina C; Melchionda, Elena E; Morotti, Alessandro A; Russo, Isabella I
Publication Date: 2021-05-30

Variant appearance in text: PCSK9: G670E
PubMed Link: 34070931
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants of PCSK9 Gene Are Associated with Subclinical Atherosclerosis and Cardiometabolic Parameters in Mexicans. The GEA Project.

Diagnostics (Basel, Switzerland)
Zamarrón-Licona, Erasmo E; Rodríguez-Pérez, José Manuel JM; Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G; Baños-González, Manuel Alfonso MA; Borgonio-Cuadra, Verónica Marusa VM; Pérez-Hernández, Nonanzit N
Publication Date: 2021-04-26

Variant appearance in text: rs505151
PubMed Link: 33925815
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00774.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: 2009G>A; G670E; rs505151
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: G670E
PubMed Link: 33748720
Variant Present in the following documents:
  • Main text
  • main.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: rs505151
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls
View BVdb publication page



Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power.

Nature Genetics
Atkinson, Elizabeth G EG; Maihofer, Adam X AX; Kanai, Masahiro M; Martin, Alicia R AR; Karczewski, Konrad J KJ; Santoro, Marcos L ML; Ulirsch, Jacob C JC; Kamatani, Yoichiro Y; Okada, Yukinori Y; Finucane, Hilary K HK; Koenen, Karestan C KC; Nievergelt, Caroline M CM; Daly, Mark J MJ; Neale, Benjamin M BM
Publication Date: 2021-02

Variant appearance in text: rs505151
PubMed Link: 33462486
Variant Present in the following documents:
  • NIHMS1655479-supplement-1.pdf
View BVdb publication page



Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics
Vasilyev, Vadim V; Zakharova, Faina F; Bogoslovskay, Tatiana T; Mandelshtam, Mikhail M
Publication Date: 2020

Variant appearance in text: PCSK9: 2009G>A; Gly670Glu; rs505151
PubMed Link: 33391333
Variant Present in the following documents:
  • Main text
  • fgene-11-550591.pdf
View BVdb publication page



PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.

Frontiers In Cardiovascular Medicine
Li, Yan-Yan YY; Wang, Hui H; Yang, Xin-Xing XX; Geng, Hong-Yu HY; Gong, Ge G; Lu, Xin-Zheng XZ
Publication Date: 2020

Variant appearance in text: rs505151
PubMed Link: 33244470
Variant Present in the following documents:
  • Main text
  • fcvm-07-582865.pdf
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: PCSK9: G670E
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.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: rs505151
PubMed Link: 33029265
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: G670E; rs505151
PubMed Link: 32769621
Variant Present in the following documents:
  • Main text
View BVdb publication page



Serum Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) is Independently Associated with Insulin Resistance, Triglycerides, Lipoprotein(a) Levels but not Low-Density Lipoprotein Cholesterol Levels in a General Population.

Journal Of Atherosclerosis And Thrombosis
Hamamura, Hitoshi H; Adachi, Hisashi H; Enomoto, Mika M; Fukami, Ako A; Nakamura, Sachiko S; Nohara, Yume Y; Morikawa, Nagisa N; Sakaue, Akiko A; Toyomasu, Kenta K; Yamamoto, Maki M; Fukumoto, Yoshihiro Y
Publication Date: 2021-04-01

Variant appearance in text: rs505151
PubMed Link: 32624555
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: rs505151
PubMed Link: 32595449
Variant Present in the following documents:
  • Main text
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
Ben Djoudi Ouadda, Ali A; Gauthier, Marie-Soleil MS; Susan-Resiga, Delia D; Girard, Emmanuelle E; Essalmani, Rachid R; Black, Miles M; Marcinkiewicz, Jadwiga J; Forget, Diane D; Hamelin, Josée J; Evagelidis, Alexandra A; Ly, Kevin K; Day, Robert R; Galarneau, Luc L; Corbin, Francois F; Coulombe, Benoit B; Çaku, Artuela A; Tagliabracci, Vincent S VS; Seidah, Nabil G NG
Publication Date: 2019-10

Variant appearance in text: rs505151
PubMed Link: 31553664
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: rs505151
PubMed Link: 31509211
Variant Present in the following documents:
  • Main text
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
Rojas, Claudio C; Ramírez, Hugo H; Salazar, Luis A LA; Kalergis, Alexis M AM; Gálvez, Anita S AS; Escobar-Vera, Jorge J
Publication Date: 2019-11

Variant appearance in text: rs505151
PubMed Link: 31441123
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Jang, Hyun-Duk HD; Lee, Sang Eun SE; Yang, Jimin J; Lee, Hyun-Chae HC; Shin, Dasom D; Lee, Hwan H; Lee, Jaewon J; Jin, Sooryeonhwa S; Kim, Soungchan S; Lee, Seung Ji SJ; You, Jihye J; Park, Hyun-Woo HW; Nam, Ky-Youb KY; Lee, Sang-Hak SH; Park, Sahng Wook SW; Kim, Jin-Soo JS; Kim, Sang-Yeob SY; Kwon, Yoo-Wook YW; Kwak, Soo Heon SH; Yang, Han-Mo HM; Kim, Hyo-Soo HS
Publication Date: 2020-01-07

Variant appearance in text: PCSK9: G670E
PubMed Link: 31419281
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: G670E; rs505151
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: 2009G>A; rs505151
PubMed Link: 31036026
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variations of the proprotein convertase subtilisin/kexin type 9 gene in coronary artery disease.

The Journal Of International Medical Research
Chiang, Shih-Min SM; Yang, Yi-Sun YS; Yang, Shun-Fa SF; Tsai, Chin-Feng CF; Ueng, Kwo-Chnag KC
Publication Date: 2020-01

Variant appearance in text: rs505151
PubMed Link: 30947598
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
Cai, Gaojun G; Yu, Lei L; Huang, Zhiying Z; Li, Li L; Fu, Xingli X
Publication Date: 2018-09-11

Variant appearance in text: rs505151
PubMed Link: 30205809
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: rs505151
PubMed Link: 29997226
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disease burden and the role of pharmacogenomics in African populations.

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

Variant appearance in text: rs505151
PubMed Link: 29868213
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: PCSK9: G670E; rs505151
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: rs505151
PubMed Link: 29447211
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: G670E; rs505151
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: rs505151
PubMed Link: 29020353
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Han, Deng-Feng DF; Ma, Jian-Hua JH; Hao, Chen-Guang CG; Tuerhong Tuerxun, ; Du, Lei L; Zhang, Xiao-Ning XN
Publication Date: 2017-08

Variant appearance in text: rs505151
PubMed Link: 28966647
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.

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

Variant appearance in text: PCSK9: G670E
PubMed Link: 28764195
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Qiu, Chengfeng C; Zeng, Pingyu P; Li, Xiaohui X; Zhang, Zhen Z; Pan, Bingjie B; Peng, Zhou Y F ZYF; Li, Yapei Y; Ma, Yeshuo Y; Leng, Yiping Y; Chen, Ruifang R
Publication Date: 2017-06-12

Variant appearance in text: rs505151
PubMed Link: 28606094
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: rs505151
PubMed Link: 28438747
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P
Publication Date: 2016-09-15

Variant appearance in text: rs505151
PubMed Link: 27466198
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: rs505151
PubMed Link: 26902539
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: rs505151
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.

Scientific Reports
Guo, Tao T; Yin, Rui-Xing RX; Huang, Feng F; Yao, Li-Mei LM; Lin, Wei-Xiong WX; Pan, Shang-Ling SL
Publication Date: 2016-01-08

Variant appearance in text: rs505151
PubMed Link: 26744084
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Influence of OLR1 and PCSK9 Gene Polymorphisms on Ischemic Stroke: Evidence from a Meta-Analysis.

Scientific Reports
Au, Anthony A; Griffiths, Lyn R LR; Cheng, Kian-Kai KK; Wee Kooi, Cheah C; Irene, Looi L; Keat Wei, Loo L
Publication Date: 2015-12-15

Variant appearance in text: rs505151
PubMed Link: 26666837
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Cai, Gaojun G; Zhang, Bifeng B; Shi, Ganwei G; Weng, Weijin W; Ma, Chunyan C; Song, Yanbin Y; Zhang, Ji J
Publication Date: 2015-11-17

Variant appearance in text: rs505151
PubMed Link: 26576960
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine
Guo, Tao T; Yin, Rui-Xing RX; Lin, Wei-Xiong WX; Wang, Wei W; Huang, Feng F; Pan, Shang-Ling SL
Publication Date: 2016-02

Variant appearance in text: rs505151
PubMed Link: 26493351
Variant Present in the following documents:
  • Main text
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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
Tran, Ngan T NT; Aslibekyan, Stella S; Tiwari, Hemant K HK; Zhi, Degui D; Sung, Yun Ju YJ; Hunt, Steven C SC; Rao, D C DC; Broeckel, Ulrich U; Judd, Suzanne E SE; Muntner, Paul P; Kent, Shia T ST; Arnett, Donna K DK; Irvin, Marguerite R MR
Publication Date: 2015

Variant appearance in text: rs505151
PubMed Link: 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
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: rs505151
PubMed Link: 25412415
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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: G670E; rs505151
PubMed Link: 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
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: rs505151
PubMed Link: 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
Desai, Pinkal P; Jay, Allison A; Bock, Cathryn C; Dyson, Gregory G; Okwuosa, Tochukwu T; Simon, Michael S MS
Publication Date: 2013-11-28

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

Current Genomics
Jelassi, Awatef A; Najah, Mohamed M; Slimani, Afef A; Jguirim, Imen I; Slimane, Mohamed Naceur MN; Varret, Mathilde M
Publication Date: 2013-03

Variant appearance in text: PCSK9: 2009G>A; Gly670Glu
PubMed Link: 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
Coram, Marc A MA; Duan, Qing Q; Hoffmann, Thomas J TJ; Thornton, Timothy T; Knowles, Joshua W JW; Johnson, Nicholas A NA; Ochs-Balcom, Heather M HM; Donlon, Timothy A TA; Martin, Lisa W LW; Eaton, Charles B CB; Robinson, Jennifer G JG; Risch, Neil J NJ; Zhu, Xiaofeng X; Kooperberg, Charles C; Li, Yun Y; Reiner, Alex P AP; Tang, Hua H
Publication Date: 2013-06-06

Variant appearance in text: PCSK9: Gly670Glu; rs505151
PubMed Link: 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
Aung, Lynn Htet Htet LH; Yin, Rui-Xing RX; Wu, Dong-Feng DF; Cao, Xiao-Li XL; Hu, Xi-Jiang XJ; Miao, Lin L
Publication Date: 2013

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

Plos One
Elbers, Clara C CC; Guo, Yiran Y; Tragante, Vinicius V; van Iperen, Erik P A EP; Lanktree, Matthew B MB; Castillo, Berta Almoguera BA; Chen, Fang F; Yanek, Lisa R LR; Wojczynski, Mary K MK; Li, Yun R YR; Ferwerda, Bart B; Ballantyne, Christie M CM; Buxbaum, Sarah G SG; Chen, Yii-Der Ida YD; Chen, Wei-Min WM; Cupples, L Adrienne LA; Cushman, Mary M; Duan, Yanan Y; Duggan, David D; Evans, Michele K MK; Fernandes, Jyotika K JK; Fornage, Myriam M; Garcia, Melissa M; Garvey, W Timothy WT; Glazer, Nicole N; Gomez, Felicia F; Harris, Tamara B TB; Halder, Indrani I; Howard, Virginia J VJ; Keller, Margaux F MF; Kamboh, M Ilyas MI; Kooperberg, Charles C; Kritchevsky, Stephen B SB; LaCroix, Andrea A; Liu, Kiang K; Liu, Yongmei Y; Musunuru, Kiran K; Newman, Anne B AB; Onland-Moret, N Charlotte NC; Ordovas, Jose J; Peter, Inga I; Post, Wendy W; Redline, Susan S; Reis, Steven E SE; Saxena, Richa R; Schreiner, Pamela J PJ; Volcik, Kelly A KA; Wang, Xingbin X; Yusuf, Salim S; Zonderland, Alan B AB; Anand, Sonia S SS; Becker, Diane M DM; Psaty, Bruce B; Rader, Daniel J DJ; Reiner, Alex P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Sale, Michèle M MM; Tsai, Michael Y MY; Borecki, Ingrid B IB; Hegele, Robert A RA; Kathiresan, Sekar S; Nalls, Michael A MA; Taylor, Herman A HA; Hakonarson, Hakon H; Sivapalaratnam, Suthesh S; Asselbergs, Folkert W FW; Drenos, Fotios F; Wilson, James G JG; Keating, Brendan J BJ
Publication Date: 2012

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

International Journal Of Molecular Sciences
Yin, Rui-Xing RX; Wu, Dong-Feng DF; Aung, Lynn Htet Htet LH; Yan, Ting-Ting TT; Cao, Xiao-Li XL; Long, Xing-Jiang XJ; Miao, Lin L; Liu, Wan-Ying WY; Zhang, Lin L; Li, Meng M
Publication Date: 2012

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

Cardiovascular Diabetology
Yin, Rui-Xing RX; Wu, Dong-Feng DF; Miao, Lin L; Aung, Lynn Htet Htet LH; Cao, Xiao-Li XL; Yan, Ting-Ting TT; Long, Xing-Jiang XJ; Liu, Wan-Ying WY; Zhang, Lin L; Li, Meng M
Publication Date: 2012-10-08

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

Plos One
Musunuru, Kiran K; Romaine, Simon P R SP; Lettre, Guillaume G; Wilson, James G JG; Volcik, Kelly A KA; Tsai, Michael Y MY; Taylor, Herman A HA; Schreiner, Pamela J PJ; Rotter, Jerome I JI; Rich, Stephen S SS; Redline, Susan S; Psaty, Bruce M BM; Papanicolaou, George J GJ; Ordovas, Jose M JM; Liu, Kiang K; Krauss, Ronald M RM; Glazer, Nicole L NL; Gabriel, Stacey B SB; Fornage, Myriam M; Cupples, L Adrienne LA; Buxbaum, Sarah G SG; Boerwinkle, Eric E; Ballantyne, Christie M CM; Kathiresan, Sekar S; Rader, Daniel J DJ
Publication Date: 2012

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

International Journal Of Biological Sciences
Yin, Rui-Xing RX; Wu, Dong-Feng DF; Wu, Jin-Zhen JZ; Cao, Xiao-Li XL; Aung, Lynn Htet Htet LH; Miao, Lin L; Long, Xing-Jiang XJ; Liu, Wan-Ying WY; Zhang, Lin L; Li, Meng M
Publication Date: 2012

Variant appearance in text: rs505151
PubMed Link: 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
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

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

Atherosclerosis
Peters, Bas J M BJ; Pett, Helmi H; Klungel, Olaf H OH; Stricker, Bruno H Ch BH; Psaty, Bruce M BM; Glazer, Nicole L NL; Wiggins, Kerri L KL; Bis, Josh C JC; de Boer, Anthonius A; Maitland-van der Zee, Anke-Hilse AH
Publication Date: 2011-08

Variant appearance in text: rs505151
PubMed Link: 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
Aung, Lynn Htet Htet LH; Yin, Rui-Xing RX; Miao, Lin L; Hu, Xi-Jiang XJ; Yan, Ting-Ting TT; Cao, Xiao-Li XL; Wu, Dong-Feng DF; Li, Qing Q; Pan, Shang-Ling SL; Wu, Jin-Zhen JZ
Publication Date: 2011-01-13

Variant appearance in text: rs505151
PubMed Link: 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
Guella, Ilaria I; Asselta, Rosanna R; Ardissino, Diego D; Merlini, Pier Angelica PA; Peyvandi, Flora F; Kathiresan, Sekar S; Mannucci, Pier Mannuccio PM; Tubaro, Marco M; Duga, Stefano S
Publication Date: 2010-11

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

Circulation. Cardiovascular Genetics
Musunuru, Kiran K; Lettre, Guillaume G; Young, Taylor T; Farlow, Deborah N DN; Pirruccello, James P JP; Ejebe, Kenechi G KG; Keating, Brendan J BJ; Yang, Qiong Q; Chen, Ming-Huei MH; Lapchyk, Nina N; Crenshaw, Andrew A; Ziaugra, Liuda L; Rachupka, Anthony A; Benjamin, Emelia J EJ; Cupples, L Adrienne LA; Fornage, Myriam M; Fox, Ervin R ER; Heckbert, Susan R SR; Hirschhorn, Joel N JN; Newton-Cheh, Christopher C; Nizzari, Marcia M MM; Paltoo, Dina N DN; Papanicolaou, George J GJ; Patel, Sanjay R SR; Psaty, Bruce M BM; Rader, Daniel J DJ; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Taylor, Herman A HA; Tracy, Russell P RP; Vasan, Ramachandran S RS; Wilson, James G JG; Kathiresan, Sekar S; Fabsitz, Richard R RR; Boerwinkle, Eric E; Gabriel, Stacey B SB; ,
Publication Date: 2010-06

Variant appearance in text: rs505151
PubMed Link: 20400780
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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: rs505151
PubMed Link: 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
Huang, Chiang-Ching CC; Fornage, Myriam M; Lloyd-Jones, Donald M DM; Wei, Gina S GS; Boerwinkle, Eric E; Liu, Kiang K
Publication Date: 2009-08

Variant appearance in text: rs505151
PubMed Link: 20031607
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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: G670E
PubMed Link: 19351729
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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: rs505151
PubMed Link: 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
Polisecki, Eliana E; Peter, Inga I; Robertson, Michele M; McMahon, Alex D AD; Ford, Ian I; Packard, Christopher C; Shepherd, James J; Jukema, J Wouter JW; Blauw, Gerard J GJ; Westendorp, Rudi G J RG; de Craen, Anton J M AJ; Trompet, Stella S; Buckley, Brendan M BM; Murphy, Michael B MB; Ordovas, Jose M JM; Schaefer, Ernst J EJ; ,
Publication Date: 2008-09

Variant appearance in text: rs505151
PubMed Link: 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
Ding, Keyue K; McDonough, Samantha J SJ; Kullo, Iftikhar J IJ
Publication Date: 2007-10-31

Variant appearance in text: rs505151
PubMed Link: 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
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: rs505151
PubMed Link: 17142622
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