PCSK9 c.524-1947C>A

Variant ID: 1-55516004-C-A

NM_174936.3(PCSK9):c.524-1947C>A

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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: rs11206514
PubMed Link: 35501368
Variant Present in the following documents:
  • Main text
  • 41431_2022_Article_1107.pdf
View BVdb publication page



Associations of genetically proxied inhibition of HMG-CoA reductase, NPC1L1, and PCSK9 with breast cancer and prostate cancer.

Breast Cancer Research : Bcr
Sun, Lulu L; Ding, Huan H; Jia, Yiming Y; Shi, Mengyao M; Guo, Daoxia D; Yang, Pinni P; Wang, Yu Y; Liu, Fanghua F; Zhang, Yonghong Y; Zhu, Zhengbao Z
Publication Date: 2022-02-12

Variant appearance in text: rs11206514
PubMed Link: 35151363
Variant Present in the following documents:
  • Main text
  • 13058_2022_Article_1508.pdf
View BVdb publication page



Associations of genetically proxied inhibition of HMG-CoA reductase, NPC1L1, and PCSK9 with breast cancer and prostate cancer.

Breast Cancer Research : Bcr
Sun, Lulu L; Ding, Huan H; Jia, Yiming Y; Shi, Mengyao M; Guo, Daoxia D; Yang, Pinni P; Wang, Yu Y; Liu, Fanghua F; Zhang, Yonghong Y; Zhu, Zhengbao Z
Publication Date: 2022-02-12

Variant appearance in text: rs11206514
PubMed Link: 35151363
Variant Present in the following documents:
  • Main text
  • 13058_2022_Article_1508.pdf
View BVdb publication page



Association Between Genetically Proxied Lipid-Lowering Drug Targets and Renal Cell Carcinoma: A Mendelian Randomization Study.

Frontiers In Nutrition
Liu, Luyang L; Sheng, Chao C; Lyu, Zhangyan Z; Dai, Hongji H; Chen, Kexin K
Publication Date: 2021

Variant appearance in text: rs11206514
PubMed Link: 34712689
Variant Present in the following documents:
  • Main text
  • fnut-08-755834.pdf
View BVdb publication page



HMG-Coenzyme A Reductase as a Drug Target for the Prevention of Ankylosing Spondylitis.

Frontiers In Cell And Developmental Biology
Zhong, Zhenyu Z; Feng, Xiaojie X; Su, Guannan G; Du, Liping L; Liao, Weiting W; Liu, Shengyun S; Li, Fuzhen F; Zuo, Xianbo X; Yang, Peizeng P
Publication Date: 2021

Variant appearance in text: rs11206514
PubMed Link: 34692687
Variant Present in the following documents:
  • Main text
  • fcell-09-731072.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: rs11206514
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.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: rs11206514
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
View BVdb publication page



Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.

Jama
Yarmolinsky, James J; Bull, Caroline J CJ; Vincent, Emma E EE; Robinson, Jamie J; Walther, Axel A; Smith, George Davey GD; Lewis, Sarah J SJ; Relton, Caroline L CL; Martin, Richard M RM
Publication Date: 2020-02-18

Variant appearance in text: rs11206514
PubMed Link: 32068819
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: rs11206514
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_MOESM1_ESM.pdf
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: rs11206514
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
  • medscimonit-20-1758.pdf
View BVdb publication page



Serum cholesterol and variant in cholesterol-related gene CETP predict white matter microstructure.

Neurobiology Of Aging
Warstadt, Nicholus M NM; Dennis, Emily L EL; Jahanshad, Neda N; Kohannim, Omid O; Nir, Talia M TM; McMahon, Katie L KL; de Zubicaray, Greig I GI; Montgomery, Grant W GW; Henders, Anjali K AK; Martin, Nicholas G NG; Whitfield, John B JB; Jack, Clifford R CR; Bernstein, Matt A MA; Weiner, Michael W MW; Toga, Arthur W AW; Wright, Margaret J MJ; Thompson, Paul M PM; ,
Publication Date: 2014-11

Variant appearance in text: rs11206514
PubMed Link: 24997672
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: rs11206514
PubMed Link: 23300213
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11206514
PubMed Link: 19336475
Variant Present in the following documents:
  • ddp159_1.pdf
View BVdb publication page