PCSK9 c.799+288C>T

Variant ID: 1-55518752-C-T

NM_174936.3(PCSK9):c.799+288C>T

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Association of PCSK9 levels and genetic polymorphisms with stroke recurrence and functional outcome after acute ischemic stroke.

Annals Of Translational Medicine
Chen, Weiqi W; Wang, Yicong Y; Meng, Xia X; Pan, Yuesong Y; Wang, Mengxing M; Li, Hao H; Wang, Yilong Y; Wang, Yongjun Y
Publication Date: 2022-07

Variant appearance in text: rs7552841
PubMed Link: 35957726
Variant Present in the following documents:
  • Main text
  • atm-10-13-729.pdf
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Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association
Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS
Publication Date: 2022-06-21

Variant appearance in text: rs7552841
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361-s001.pdf
  • JAH3-11-e025361.pdf
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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: rs7552841
PubMed Link: 35241713
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_7344.pdf
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Genetic Regulatory Networks of Apolipoproteins and Associated Medical Risks.

Frontiers In Cardiovascular Medicine
Basavaraju, Preethi P; Balasubramani, Rubadevi R; Kathiresan, Divya Sri DS; Devaraj, Ilakkiyapavai I; Babu, Kavipriya K; Alagarsamy, Vasanthakumar V; Puthamohan, Vinayaga Moorthi VM
Publication Date: 2021

Variant appearance in text: rs7552841
PubMed Link: 35071357
Variant Present in the following documents:
  • Main text
  • fcvm-08-788852.pdf
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Genetics Is of the Essence to Face NAFLD.

Biomedicines
Meroni, Marica M; Longo, Miriam M; Tria, Giada G; Dongiovanni, Paola P
Publication Date: 2021-09-30

Variant appearance in text: rs7552841
PubMed Link: 34680476
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01359.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: rs7552841
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
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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: rs7552841
PubMed Link: 33886544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of Multivariable Mendelian Randomization to Address Biases Due to Competing Risk Before Recruitment.

Frontiers In Genetics
Schooling, C M CM; Lopez, P M PM; Yang, Z Z; Zhao, J V JV; Au Yeung, Shiu Lun SL; Huang, Jian V JV
Publication Date: 2020

Variant appearance in text: rs7552841
PubMed Link: 33519914
Variant Present in the following documents:
  • Main text
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: rs7552841
PubMed Link: 33488877
Variant Present in the following documents:
  • Main text
  • AMS-17-1-127226.pdf
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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: PCSK9: 799+288C>T; rs7552841
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 21
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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: rs7552841
PubMed Link: 32838838
Variant Present in the following documents:
  • Main text
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Genetic and In Vitro Inhibition of PCSK9 and Calcific Aortic Valve Stenosis.

Jacc. Basic To Translational Science
Perrot, Nicolas N; Valerio, Vincenza V; Moschetta, Donato D; Boekholdt, S Matthijs SM; Dina, Christian C; Chen, Hao Yu HY; Abner, Erik E; Martinsson, Andreas A; Manikpurage, Hasanga D HD; Rigade, Sidwell S; Capoulade, Romain R; Mass, Elvira E; Clavel, Marie-Annick MA; Le Tourneau, Thierry T; Messika-Zeitoun, David D; Wareham, Nicholas J NJ; Engert, James C JC; Polvani, Gianluca G; Pibarot, Philippe P; Esko, Tõnu T; Smith, J Gustav JG; Mathieu, Patrick P; Thanassoulis, George G; Schott, Jean-Jacques JJ; Bossé, Yohan Y; Camera, Marina M; Thériault, Sébastien S; Poggio, Paolo P; Arsenault, Benoit J BJ
Publication Date: 2020-07

Variant appearance in text: rs7552841
PubMed Link: 32760854
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
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Genetic drug target validation using Mendelian randomisation.

Nature Communications
Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD
Publication Date: 2020-06-26

Variant appearance in text: rs7552841
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
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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
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: rs7552841
PubMed Link: 32208829
Variant Present in the following documents:
  • JAH3-9-e014758.pdf
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Genetic Determinants of Lipids and Cardiovascular Disease Outcomes: A Wide-Angled Mendelian Randomization Investigation.

Circulation. Genomic And Precision Medicine
Allara, Elias E; Morani, Gabriele G; Carter, Paul P; Gkatzionis, Apostolos A; Zuber, Verena V; Foley, Christopher N CN; Rees, Jessica M B JMB; Mason, Amy M AM; Bell, Steven S; Gill, Dipender D; Lindström, Sara S; Butterworth, Adam S AS; Di Angelantonio, Emanuele E; Peters, James J; Burgess, Stephen S; ,
Publication Date: 2019-12

Variant appearance in text: rs7552841
PubMed Link: 31756303
Variant Present in the following documents:
  • hcg-12-e002711-s001.pdf
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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: rs7552841
PubMed Link: 31509211
Variant Present in the following documents:
  • Main text
  • jamanetwopen-2-e1911130-s001.pdf
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Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific Reports
Real, Luis Miguel LM; Macías, Juan J; Rivero-Juárez, Antonio A; Téllez, Francisco F; Merino, Dolores D; Moreno-Grau, Sonia S; Orellana, Adelina A; Gómez-Salgado, Juan J; Sáez, María E ME; Frías, Mario M; Corma-Gómez, Anaïs A; Merchante, Nicolás N; Ruiz, Agustín A; Caruz, Antonio A; Pineda, Juan A JA; ,
Publication Date: 2019-06-21

Variant appearance in text: rs7552841
PubMed Link: 31227787
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative Approach to Reveal Cell Type Specificity and Gene Candidates for Psoriatic Arthritis Outside the MHC.

Frontiers In Genetics
Patrick, Matthew T MT; Stuart, Philip E PE; Raja, Kalpana K; Chi, Sunyi S; He, Zhi Z; Voorhees, John J JJ; Tejasvi, Trilokraj T; Gudjonsson, Johann E JE; Kahlenberg, J Michelle JM; Chandran, Vinod V; Rahman, Proton P; Gladman, Dafna D DD; Nair, Rajan P RP; Elder, James T JT; Tsoi, Lam C LC
Publication Date: 2019

Variant appearance in text: rs7552841
PubMed Link: 31031798
Variant Present in the following documents:
  • Main text
  • fgene-10-00304.pdf
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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
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: rs7552841
PubMed Link: 30645169
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications
Nowak, Christoph C; Ärnlöv, Johan J
Publication Date: 2018-09-27

Variant appearance in text: rs7552841
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_MOESM1_ESM.pdf
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: PCSK9: 799+288C>T; rs7552841
PubMed Link: 26744084
Variant Present in the following documents:
  • Main text
  • srep19079.pdf
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Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine
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: rs7552841
PubMed Link: 26493351
Variant Present in the following documents:
  • Main text
  • JCMM-20-243.pdf
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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: rs7552841
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
  • medscimonit-20-1758.pdf
View BVdb publication page



SNP-SNP interactions dominate the genetic architecture of candidate genes associated with left ventricular mass in African-Americans of the GENOA study.

Bmc Medical Genetics
Meyers, Kristin J KJ; Chu, Jian J; Mosley, Thomas H TH; Kardia, Sharon L R SL
Publication Date: 2010-11-10

Variant appearance in text: rs7552841
PubMed Link: 21067599
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-160.pdf
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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: rs7552841
PubMed Link: 20699424
Variant Present in the following documents:
  • Main text
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Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics
Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2009-06-15

Variant appearance in text: rs7552841
PubMed Link: 19336475
Variant Present in the following documents:
  • ddp159_1.pdf
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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: rs7552841
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page