Variant ID: 1-55505668-C-G

NM_174936.3(PCSK9):c.158C>G;(p.A53G)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


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: rs11583680
PubMed Link: 35480303
Variant Present in the following documents:
  • fgene-13-875269.pdf
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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications
Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G
Publication Date: 2021-10-06

Variant appearance in text: PCSK9: Ala53Gly
PubMed Link: 34615865
Variant Present in the following documents:
  • 41467_2021_26114_MOESM2_ESM.pdf
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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: rs11583680
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
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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: rs11583680
PubMed Link: 34075144
Variant Present in the following documents:
  • Main text
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Circulating Proprotein Convertase Subtilisin/Kexin Type 9 Levels and Cardiometabolic Risk Factors: A Population-Based Cohort Study.

Frontiers In Cardiovascular Medicine
Shi, Jie J; Li, Xiaoyong X; Zhang, Weiwei W; Niu, Yixin Y; Lin, Ning N; Zhang, Hongmei H; Ning, Guang G; Fan, Jiangao J; Qin, Li L; Su, Qing Q; Yang, Zhen Z
Publication Date: 2021

Variant appearance in text: rs11583680
PubMed Link: 34041285
Variant Present in the following documents:
  • Main text
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Susceptibility of ApoB and PCSK9 Genetic Polymorphisms to Diabetic Kidney Disease Among Chinese Diabetic Patients.

Frontiers In Medicine
Ma, Liang L; Wang, Shaoting S; Zhao, Hailing H; Yu, Meijie M; Deng, Xiangling X; Jiang, Yongwei Y; Cao, Yongtong Y; Li, Ping P; Niu, Wenquan W
Publication Date: 2021

Variant appearance in text: rs11583680
PubMed Link: 33889589
Variant Present in the following documents:
  • Main text
  • fmed-08-659188.pdf
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The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: PCSK9: Ala53Gly
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
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PCSK9 loss of function is protective against extra-coronary atherosclerotic cardiovascular disease in a large multi-ethnic cohort.

Plos One
Small, Aeron M AM; Huffman, Jennifer E JE; Klarin, Derek D; Lynch, Julie A JA; Assimes, Themistocles T; DuVall, Scott S; Sun, Yan V YV; Shere, Labiba L; Natarajan, Pradeep P; Gaziano, Michael M; Rader, Daniel J DJ; Wilson, Peter W F PWF; Tsao, Philip S PS; Chang, Kyong-Mi KM; Cho, Kelly K; O'Donnell, Christopher J CJ; Casas, Juan P JP; Damrauer, Scott M SM; ,
Publication Date: 2020

Variant appearance in text: rs11583680
PubMed Link: 33166319
Variant Present in the following documents:
  • Main text
  • pone.0239752.pdf
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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs11583680
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
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Association of Genetic and Environmental Factors with Non-Alcoholic Fatty Liver Disease in a Chinese Han Population.

International Journal Of Environmental Research And Public Health
Li, Zheng Z; Ye, Cheng-Yin CY; Wang, Li L; Li, Jin-Mei JM; Yang, Lei L
Publication Date: 2020-07-20

Variant appearance in text: rs11583680
PubMed Link: 32698306
Variant Present in the following documents:
  • Main text
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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: rs11583680
PubMed Link: 32595449
Variant Present in the following documents:
  • Main text
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Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.

Frontiers In Genetics
da Silva Francisco Junior, Ronaldo R; Dos Santos Ferreira, Cristina C; Santos E Silva, Juan Carlo JC; Terra Machado, Douglas D; Côrtes Martins, Yasmmin Y; Ramos, Victor V; Simões Carnivali, Gustavo G; Garcia, Ana Beatriz AB; Medina-Acosta, Enrique E
Publication Date: 2019

Variant appearance in text: rs11583680
PubMed Link: 31850058
Variant Present in the following documents:
  • Main text
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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.

Bmc Cardiovascular Disorders
Schmidt, Amand F AF; Holmes, Michael V MV; Preiss, David D; Swerdlow, Daniel I DI; Denaxas, Spiros S; Fatemifar, Ghazaleh G; Faraway, Rupert R; Finan, Chris C; Valentine, Dennis D; Fairhurst-Hunter, Zammy Z; Hartwig, Fernando Pires FP; Horta, Bernardo Lessa BL; Hypponen, Elina E; Power, Christine C; Moldovan, Max M; van Iperen, Erik E; Hovingh, Kees K; Demuth, Ilja I; Norman, Kristina K; Steinhagen-Thiessen, Elisabeth E; Demuth, Juri J; Bertram, Lars L; Lill, Christina M CM; Coassin, Stefan S; Willeit, Johann J; Kiechl, Stefan S; Willeit, Karin K; Mason, Dan D; Wright, John J; Morris, Richard R; Wanamethee, Goya G; Whincup, Peter P; Ben-Shlomo, Yoav Y; McLachlan, Stela S; Price, Jackie F JF; Kivimaki, Mika M; Welch, Catherine C; Sanchez-Galvez, Adelaida A; Marques-Vidal, Pedro P; Nicolaides, Andrew A; Panayiotou, Andrie G AG; Onland-Moret, N Charlotte NC; van der Schouw, Yvonne T YT; Matullo, Giuseppe G; Fiorito, Giovanni G; Guarrera, Simonetta S; Sacerdote, Carlotta C; Wareham, Nicholas J NJ; Langenberg, Claudia C; Scott, Robert A RA; Luan, Jian'an J; Bobak, Martin M; Malyutina, Sofia S; Pająk, Andrzej A; Kubinova, Ruzena R; Tamosiunas, Abdonas A; Pikhart, Hynek H; Grarup, Niels N; Pedersen, Oluf O; Hansen, Torben T; Linneberg, Allan A; Jess, Tine T; Cooper, Jackie J; Humphries, Steve E SE; Brilliant, Murray M; Kitchner, Terrie T; Hakonarson, Hakon H; Carrell, David S DS; McCarty, Catherine A CA; Lester, Kirchner H KH; Larson, Eric B EB; Crosslin, David R DR; de Andrade, Mariza M; Roden, Dan M DM; Denny, Joshua C JC; Carty, Cara C; Hancock, Stephen S; Attia, John J; Holliday, Elizabeth E; Scott, Rodney R; Schofield, Peter P; O'Donnell, Martin M; Yusuf, Salim S; Chong, Michael M; Pare, Guillaume G; van der Harst, Pim P; Said, M Abdullah MA; Eppinga, Ruben N RN; Verweij, Niek N; Snieder, Harold H; , ; Christen, Tim T; Mook-Kanamori, D O DO; , ; Gustafsson, Stefan S; Lind, Lars L; Ingelsson, Erik E; Pazoki, Raha R; Franco, Oscar O; Hofman, Albert A; Uitterlinden, Andre A; Dehghan, Abbas A; Teumer, Alexander A; Baumeister, Sebastian S; Dörr, Marcus M; Lerch, Markus M MM; Völker, Uwe U; Völzke, Henry H; Ward, Joey J; Pell, Jill P JP; Meade, Tom T; Christophersen, Ingrid E IE; Maitland-van der Zee, Anke H AH; Baranova, Ekaterina V EV; Young, Robin R; Ford, Ian I; Campbell, Archie A; Padmanabhan, Sandosh S; Bots, Michiel L ML; Grobbee, Diederick E DE; Froguel, Philippe P; Thuillier, Dorothée D; Roussel, Ronan R; Bonnefond, Amélie A; Cariou, Bertrand B; Smart, Melissa M; Bao, Yanchun Y; Kumari, Meena M; Mahajan, Anubha A; Hopewell, Jemma C JC; Seshadri, Sudha S; , ; Dale, Caroline C; Costa, Rui Providencia E RPE; Ridker, Paul M PM; Chasman, Daniel I DI; Reiner, Alex P AP; Ritchie, Marylyn D MD; Lange, Leslie A LA; Cornish, Alex J AJ; Dobbins, Sara E SE; Hemminki, Kari K; Kinnersley, Ben B; Sanson, Marc M; Labreche, Karim K; Simon, Matthias M; Bondy, Melissa M; Law, Philip P; Speedy, Helen H; Allan, James J; Li, Ni N; Went, Molly M; Weinhold, Niels N; Morgan, Gareth G; Sonneveld, Pieter P; Nilsson, Björn B; Goldschmidt, Hartmut H; Sud, Amit A; Engert, Andreas A; Hansson, Markus M; Hemingway, Harry H; Asselbergs, Folkert W FW; Patel, Riyaz S RS; Keating, Brendan J BJ; Sattar, Naveed N; Houlston, Richard R; Casas, Juan P JP; Hingorani, Aroon D AD
Publication Date: 2019-10-29

Variant appearance in text: rs11583680
PubMed Link: 31664920
Variant Present in the following documents:
  • Main text
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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: rs11583680
PubMed Link: 31509211
Variant Present in the following documents:
  • Main text
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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
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: rs11583680
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
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Associations for BCO2, PCSK9, and TR1B1 Polymorphism and Lifestyle Factors with Ischemic Stroke: A Nested Case-Control Study.

Yonsei Medical Journal
Zhao, Tian Yu TY; Li, Zheng Z; Lei, Song S; Huang, Liu L; Yang, Lei L
Publication Date: 2019-07

Variant appearance in text: rs11583680
PubMed Link: 31250580
Variant Present in the following documents:
  • Main text
View BVdb publication page



A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ
Publication Date: 2019

Variant appearance in text: rs11583680
PubMed Link: 30774981
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: rs11583680
PubMed Link: 29997226
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.

The Lancet. Diabetes & Endocrinology
Schmidt, Amand F AF; Swerdlow, Daniel I DI; Holmes, Michael V MV; Patel, Riyaz S RS; Fairhurst-Hunter, Zammy Z; Lyall, Donald M DM; Hartwig, Fernando Pires FP; Horta, Bernardo Lessa BL; Hyppönen, Elina E; Power, Christine C; Moldovan, Max M; van Iperen, Erik E; Hovingh, G Kees GK; Demuth, Ilja I; Norman, Kristina K; Steinhagen-Thiessen, Elisabeth E; Demuth, Juri J; Bertram, Lars L; Liu, Tian T; Coassin, Stefan S; Willeit, Johann J; Kiechl, Stefan S; Willeit, Karin K; Mason, Dan D; Wright, John J; Morris, Richard R; Wanamethee, Goya G; Whincup, Peter P; Ben-Shlomo, Yoav Y; McLachlan, Stela S; Price, Jackie F JF; Kivimaki, Mika M; Welch, Catherine C; Sanchez-Galvez, Adelaida A; Marques-Vidal, Pedro P; Nicolaides, Andrew A; Panayiotou, Andrie G AG; Onland-Moret, N Charlotte NC; van der Schouw, Yvonne T YT; Matullo, Giuseppe G; Fiorito, Giovanni G; Guarrera, Simonetta S; Sacerdote, Carlotta C; Wareham, Nicholas J NJ; Langenberg, Claudia C; Scott, Robert R; Luan, Jian'an J; Bobak, Martin M; Malyutina, Sofia S; Pająk, Andrzej A; Kubinova, Ruzena R; Tamosiunas, Abdonas A; Pikhart, Hynek H; Husemoen, Lise Lotte Nystrup LL; Grarup, Niels N; Pedersen, Oluf O; Hansen, Torben T; Linneberg, Allan A; Simonsen, Kenneth Starup KS; Cooper, Jackie J; Humphries, Steve E SE; Brilliant, Murray M; Kitchner, Terrie T; Hakonarson, Hakon H; Carrell, David S DS; McCarty, Catherine A CA; Kirchner, H Lester HL; Larson, Eric B EB; Crosslin, David R DR; de Andrade, Mariza M; Roden, Dan M DM; Denny, Joshua C JC; Carty, Cara C; Hancock, Stephen S; Attia, John J; Holliday, Elizabeth E; O'Donnell, Martin M; Yusuf, Salim S; Chong, Michael M; Pare, Guillaume G; van der Harst, Pim P; Said, M Abdullah MA; Eppinga, Ruben N RN; Verweij, Niek N; Snieder, Harold H; , ; Christen, Tim T; Mook-Kanamori, Dennis O DO; Gustafsson, Stefan S; Lind, Lars L; Ingelsson, Erik E; Pazoki, Raha R; Franco, Oscar O; Hofman, Albert A; Uitterlinden, Andre A; Dehghan, Abbas A; Teumer, Alexander A; Baumeister, Sebastian S; Dörr, Marcus M; Lerch, Markus M MM; Völker, Uwe U; Völzke, Henry H; Ward, Joey J; Pell, Jill P JP; Smith, Daniel J DJ; Meade, Tom T; Maitland-van der Zee, Anke H AH; Baranova, Ekaterina V EV; Young, Robin R; Ford, Ian I; Campbell, Archie A; Padmanabhan, Sandosh S; Bots, Michiel L ML; Grobbee, Diederick E DE; Froguel, Philippe P; Thuillier, Dorothée D; Balkau, Beverley B; Bonnefond, Amélie A; Cariou, Bertrand B; Smart, Melissa M; Bao, Yanchun Y; Kumari, Meena M; Mahajan, Anubha A; Ridker, Paul M PM; Chasman, Daniel I DI; Reiner, Alex P AP; Lange, Leslie A LA; Ritchie, Marylyn D MD; Asselbergs, Folkert W FW; Casas, Juan-Pablo JP; Keating, Brendan J BJ; Preiss, David D; Hingorani, Aroon D AD; , ; Sattar, Naveed N
Publication Date: 2017-02

Variant appearance in text: rs11583680
PubMed Link: 27908689
Variant Present in the following documents:
  • Main text
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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: rs11583680
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
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The dual behavior of PCSK9 in the regulation of apoptosis is crucial in Alzheimer's disease progression (Review).

Biomedical Reports
Wu, Qi Q; Tang, Zhi-Han ZH; Peng, Juan J; Liao, Ling L; Pan, Li-Hong LH; Wu, Chun-Yan CY; Jiang, Zhi-Sheng ZS; Wang, Gui-Xue GX; Liu, Lu-Shan LS
Publication Date: 2014-03

Variant appearance in text: rs11583680
PubMed Link: 24649090
Variant Present in the following documents:
  • Main text
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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: rs11583680
PubMed Link: 23300213
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: rs11583680
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page