PCSK9 c.523+742T>C

Variant ID: 1-55513061-T-C

NM_174936.3(PCSK9):c.523+742T>C

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs10888897
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs10888897
PubMed Link: 35957726
Variant Present in the following documents:
  • Main text
  • atm-10-13-729.pdf
View BVdb publication page



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: rs10888897
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361-s001.pdf
  • JAH3-11-e025361.pdf
View BVdb publication page



Genetic analysis of the PCSK9 locus in psychological, psychiatric, metabolic and cardiovascular traits in UK Biobank.

European Journal Of Human Genetics : Ejhg
Hay, Rachel R; Cullen, Breda B; Graham, Nicholas N; Lyall, Donald M DM; Aman, Alisha A; Pell, Jill P JP; Ward, Joey J; Smith, Daniel J DJ; Strawbridge, Rona J RJ
Publication Date: 2022-12

Variant appearance in text: rs10888897
PubMed Link: 35501368
Variant Present in the following documents:
  • Main text
  • 41431_2022_Article_1107.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: rs10888897
PubMed Link: 35241713
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_7344.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: rs10888897
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
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: rs10888897
PubMed Link: 33886544
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: rs10888897
PubMed Link: 33488877
Variant Present in the following documents:
  • Main text
  • AMS-17-1-127226.pdf
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: rs10888897
PubMed Link: 32838838
Variant Present in the following documents:
  • Main text
  • elife-58567.pdf
View BVdb publication page



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: rs10888897
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
View BVdb publication page



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: rs10888897
PubMed Link: 31756303
Variant Present in the following documents:
  • hcg-12-e002711-s001.pdf
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: rs10888897
PubMed Link: 31509211
Variant Present in the following documents:
  • Main text
  • jamanetwopen-2-e1911130-s001.pdf
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: rs10888897
PubMed Link: 30645169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Jama Cardiology
Lotta, Luca A LA; Stewart, Isobel D ID; Sharp, Stephen J SJ; Day, Felix R FR; Burgess, Stephen S; Luan, Jian'an J; Bowker, Nicholas N; Cai, Lina L; Li, Chen C; Wittemans, Laura B L LBL; Kerrison, Nicola D ND; Khaw, Kay-Tee KT; McCarthy, Mark I MI; O'Rahilly, Stephen S; Scott, Robert A RA; Savage, David B DB; Perry, John R B JRB; Langenberg, Claudia C; Wareham, Nicholas J NJ
Publication Date: 2018-10-01

Variant appearance in text: rs10888897
PubMed Link: 30326043
Variant Present in the following documents:
  • jamacardiol-3-957-s001.pdf
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: rs10888897
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
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: rs10888897
PubMed Link: 23300213
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs10888897
PubMed Link: 20699424
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: rs10888897
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page