Variant ID: 1-55518467-A-G

NM_174936.3(PCSK9):c.799+3A>G

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: rs2495477
PubMed Link: 35151363
Variant Present in the following documents:
  • Main text
  • 13058_2022_Article_1508.pdf
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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: rs2495477
PubMed Link: 34712689
Variant Present in the following documents:
  • Main text
  • fnut-08-755834.pdf
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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: rs2495477
PubMed Link: 34692687
Variant Present in the following documents:
  • Main text
  • fcell-09-731072.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: rs2495477
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: rs2495477
PubMed Link: 34075144
Variant Present in the following documents:
  • Main text
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: rs2495477
PubMed Link: 33886544
Variant Present in the following documents:
  • pgen.1009525.s020.pdf
  • pgen.1009525.s016.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+3A>G; rs2495477
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx
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Exploring the causal roles of circulating remnant lipid profile on cardiovascular and cerebrovascular diseases: Mendelian randomization study.

Journal Of Epidemiology
Si, Shucheng S; Hou, Lei L; Chen, Xiaolu X; Li, Wenchao W; Liu, Xinhui X; Liu, Congcong C; Li, Yunxia Y; Yuan, Tonghui T; Li, Jiqing J; Wang, Bojie B; Li, Hongkai H; Xue, Fuzhong F
Publication Date: 2021-01-13

Variant appearance in text: rs2495477
PubMed Link: 33441507
Variant Present in the following documents:
  • je-32-205-s001.pdf
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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: rs2495477
PubMed Link: 32068819
Variant Present in the following documents:
  • Main text
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A PLSPM-based test statistic for detecting gene-gene co-association in genome-wide association study with case-control design.

Plos One
Zhang, Xiaoshuai X; Yang, Xiaowei X; Yuan, Zhongshang Z; Liu, Yanxun Y; Li, Fangyu F; Peng, Bin B; Zhu, Dianwen D; Zhao, Jinghua J; Xue, Fuzhong F
Publication Date: 2013

Variant appearance in text: rs2495477
PubMed Link: 23620809
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: rs2495477
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
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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: rs2495477
PubMed Link: 20699424
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2495477
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page