Variant ID: 1-55523865-C-T

NM_174936.3(PCSK9):c.1337C>T;(p.P446L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: PCSK9: P446L
PubMed Link: 32698306
Variant Present in the following documents:
  • Main text
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Quantile-dependent expressivity of postprandial lipemia.

Plos One
Williams, Paul T PT
Publication Date: 2020

Variant appearance in text: PCSK9: P446L
PubMed Link: 32101585
Variant Present in the following documents:
  • Main text
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The impact of low-frequency and rare variants on lipid levels.

Nature Genetics
Surakka, Ida I; Horikoshi, Momoko M; Mägi, Reedik R; Sarin, Antti-Pekka AP; Mahajan, Anubha A; Lagou, Vasiliki V; Marullo, Letizia L; Ferreira, Teresa T; Miraglio, Benjamin B; Timonen, Sanna S; Kettunen, Johannes J; Pirinen, Matti M; Karjalainen, Juha J; Thorleifsson, Gudmar G; Hägg, Sara S; Hottenga, Jouke-Jan JJ; Isaacs, Aaron A; Ladenvall, Claes C; Beekman, Marian M; Esko, Tõnu T; Ried, Janina S JS; Nelson, Christopher P CP; Willenborg, Christina C; Gustafsson, Stefan S; Westra, Harm-Jan HJ; Blades, Matthew M; de Craen, Anton J M AJ; de Geus, Eco J EJ; Deelen, Joris J; Grallert, Harald H; Hamsten, Anders A; Havulinna, Aki S AS; Hengstenberg, Christian C; Houwing-Duistermaat, Jeanine J JJ; Hyppönen, Elina E; Karssen, Lennart C LC; Lehtimäki, Terho T; Lyssenko, Valeriya V; Magnusson, Patrik K E PK; Mihailov, Evelin E; Müller-Nurasyid, Martina M; Mpindi, John-Patrick JP; Pedersen, Nancy L NL; Penninx, Brenda W J H BW; Perola, Markus M; Pers, Tune H TH; Peters, Annette A; Rung, Johan J; Smit, Johannes H JH; Steinthorsdottir, Valgerdur V; Tobin, Martin D MD; Tsernikova, Natalia N; van Leeuwen, Elisabeth M EM; Viikari, Jorma S JS; Willems, Sara M SM; Willemsen, Gonneke G; Schunkert, Heribert H; Erdmann, Jeanette J; Samani, Nilesh J NJ; Kaprio, Jaakko J; Lind, Lars L; Gieger, Christian C; Metspalu, Andres A; Slagboom, P Eline PE; Groop, Leif L; van Duijn, Cornelia M CM; Eriksson, Johan G JG; Jula, Antti A; Salomaa, Veikko V; Boomsma, Dorret I DI; Power, Christine C; Raitakari, Olli T OT; Ingelsson, Erik E; Järvelin, Marjo-Riitta MR; Thorsteinsdottir, Unnur U; Franke, Lude L; Ikonen, Elina E; Kallioniemi, Olli O; Pietiäinen, Vilja V; Lindgren, Cecilia M CM; Stefansson, Kari K; Palotie, Aarno A; McCarthy, Mark I MI; Morris, Andrew P AP; Prokopenko, Inga I; Ripatti, Samuli S; ,
Publication Date: 2015-06

Variant appearance in text: PCSK9: Pro446Leu
PubMed Link: 25961943
Variant Present in the following documents:
  • Main text
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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: PCSK9: P446L
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
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Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

American Journal Of Human Genetics
Talmud, Philippa J PJ; Drenos, Fotios F; Shah, Sonia S; Shah, Tina T; Palmen, Jutta J; Verzilli, Claudio C; Gaunt, Tom R TR; Pallas, Jacky J; Lovering, Ruth R; Li, Kawah K; Casas, Juan Pablo JP; Sofat, Reecha R; Kumari, Meena M; Rodriguez, Santiago S; Johnson, Toby T; Newhouse, Stephen J SJ; Dominiczak, Anna A; Samani, Nilesh J NJ; Caulfield, Mark M; Sever, Peter P; Stanton, Alice A; Shields, Denis C DC; Padmanabhan, Sandosh S; Melander, Olle O; Hastie, Claire C; Delles, Christian C; Ebrahim, Shah S; Marmot, Michael G MG; Smith, George Davey GD; Lawlor, Debbie A DA; Munroe, Patricia B PB; Day, Ian N IN; Kivimaki, Mika M; Whittaker, John J; Humphries, Steve E SE; Hingorani, Aroon D AD; , ; , ; ,
Publication Date: 2009-11

Variant appearance in text: PCSK9: P446L
PubMed Link: 19913121
Variant Present in the following documents:
  • Main text
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Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

Circulation. Cardiovascular Genetics
Chasman, Daniel I DI; Paré, Guillaume G; Zee, Robert Y L RY; Parker, Alex N AN; Cook, Nancy R NR; Buring, Julie E JE; Kwiatkowski, David J DJ; Rose, Lynda M LM; Smith, Joshua D JD; Williams, Paul T PT; Rieder, Mark J MJ; Rotter, Jerome I JI; Nickerson, Deborah A DA; Krauss, Ronald M RM; Miletich, Joseph P JP; Ridker, Paul M PM
Publication Date: 2008-10

Variant appearance in text: PCSK9: P446L
PubMed Link: 19802338
Variant Present in the following documents:
  • Main text
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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hindorff, Lucia A LA; Sethupathy, Praveen P; Junkins, Heather A HA; Ramos, Erin M EM; Mehta, Jayashri P JP; Collins, Francis S FS; Manolio, Teri A TA
Publication Date: 2009-06-09

Variant appearance in text: PCSK9: P446L
PubMed Link: 19474294
Variant Present in the following documents:
  • Main text
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Common variants at 30 loci contribute to polygenic dyslipidemia.

Nature Genetics
Kathiresan, Sekar S; Willer, Cristen J CJ; Peloso, Gina M GM; Demissie, Serkalem S; Musunuru, Kiran K; Schadt, Eric E EE; Kaplan, Lee L; Bennett, Derrick D; Li, Yun Y; Tanaka, Toshiko T; Voight, Benjamin F BF; Bonnycastle, Lori L LL; Jackson, Anne U AU; Crawford, Gabriel G; Surti, Aarti A; Guiducci, Candace C; Burtt, Noel P NP; Parish, Sarah S; Clarke, Robert R; Zelenika, Diana D; Kubalanza, Kari A KA; Morken, Mario A MA; Scott, Laura J LJ; Stringham, Heather M HM; Galan, Pilar P; Swift, Amy J AJ; Kuusisto, Johanna J; Bergman, Richard N RN; Sundvall, Jouko J; Laakso, Markku M; Ferrucci, Luigi L; Scheet, Paul P; Sanna, Serena S; Uda, Manuela M; Yang, Qiong Q; Lunetta, Kathryn L KL; Dupuis, Josée J; de Bakker, Paul I W PI; O'Donnell, Christopher J CJ; Chambers, John C JC; Kooner, Jaspal S JS; Hercberg, Serge S; Meneton, Pierre P; Lakatta, Edward G EG; Scuteri, Angelo A; Schlessinger, David D; Tuomilehto, Jaakko J; Collins, Francis S FS; Groop, Leif L; Altshuler, David D; Collins, Rory R; Lathrop, G Mark GM; Melander, Olle O; Salomaa, Veikko V; Peltonen, Leena L; Orho-Melander, Marju M; Ordovas, Jose M JM; Boehnke, Michael M; Abecasis, Gonçalo R GR; Mohlke, Karen L KL; Cupples, L Adrienne LA
Publication Date: 2009-01

Variant appearance in text: PCSK9: P446L
PubMed Link: 19060906
Variant Present in the following documents:
  • Main text
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