PCSK9 c.137G>T ;(p.R46L)

Variant ID: 1-55505647-G-T

NM_174936.3(PCSK9):c.137G>T;(p.R46L)

This variant was identified in 305 publications

View GRCh38 version.




Publications:


The Potential of Single Nucleotide Polymorphisms (SNPs) as Biomarkers and Their Association with the Increased Risk of Coronary Heart Disease: A Systematic Review.

Vascular Health And Risk Management
Sitinjak, Bernap Dwi Putra BDP; Murdaya, Niky N; Rachman, Tiara Anisya TA; Zakiyah, Neily N; Barliana, Melisa Intan MI
Publication Date: 2023

Variant appearance in text: rs11591147
PubMed Link: 37179817
Variant Present in the following documents:
  • Main text
  • vhrm-19-289.pdf
View BVdb publication page



Atherosclerosis Calcification: Focus on Lipoproteins.

Metabolites
Neels, Jaap G JG; Leftheriotis, Georges G; Chinetti, Giulia G
Publication Date: 2023-03-21

Variant appearance in text: PCSK9: R46L
PubMed Link: 36984897
Variant Present in the following documents:
  • Main text
  • metabolites-13-00457.pdf
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Genetic outline of the hermeneutics of the diseases connection phenomenon in human.

Vavilovskii Zhurnal Genetiki I Selektsii
Bragina, E Yu EY; Puzyrev, V P VP
Publication Date: 2023-03

Variant appearance in text: PCSK9: R46L
PubMed Link: 36923482
Variant Present in the following documents:
  • Main text
  • VJGB-27-2303.pdf
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A Review of Low-Density Lipoprotein-Lowering Diets in the Age of Anti-Sense Technology.

Nutrients
Nestel, Paul J PJ; Mori, Trevor A TA
Publication Date: 2023-03-01

Variant appearance in text: PCSK9: R46L
PubMed Link: 36904248
Variant Present in the following documents:
  • Main text
  • nutrients-15-01249.pdf
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Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Cell Genomics
Belkadi, Aziz A; Thareja, Gaurav G; Abbaszadeh, Fatemeh F; Badii, Ramin R; Fauman, Eric E; Albagha, Omar M E OME; , ; Suhre, Karsten K
Publication Date: 2023-01-11

Variant appearance in text: rs11591147
PubMed Link: 36777185
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc11.pdf
  • mmc5.xlsx, sheet 2
  • mmc1.pdf
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PCSK9 deficiency alters brain lipid composition without affecting brain development and function.

Frontiers In Molecular Neuroscience
Pärn, Angela A; Olsen, Ditte D; Tuvikene, Jürgen J; Kaas, Mathias M; Borisova, Ekaterina E; Bilgin, Mesut M; Elhauge, Mie M; Vilstrup, Joachim J; Madsen, Peder P; Ambrozkiewicz, Mateusz C MC; Goz, Roman U RU; Timmusk, Tõnis T; Tarabykin, Victor V; Gustafsen, Camilla C; Glerup, Simon S
Publication Date: 2022

Variant appearance in text: PCSK9: R46L
PubMed Link: 36733269
Variant Present in the following documents:
  • Main text
  • fnmol-15-1084633.pdf
View BVdb publication page



LDL lowering effect of PCSK9 inhibition is reduced in women.

European Heart Journal. Cardiovascular Pharmacotherapy
Myasoedova, V A VA; Rimbert, A A; Camera, M M; Le May, C C; Capoulade, R R; Cariou, B B; Poggio, P P
Publication Date: 2023-01-31

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 36722156
Variant Present in the following documents:
  • Main text
  • pvad009.pdf
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Clinical potential of inclisiran for patients with a high risk of atherosclerotic cardiovascular disease.

Cardiovascular Diabetology
Nishikido, Toshiyuki T
Publication Date: 2023-01-30

Variant appearance in text: PCSK9: R46L
PubMed Link: 36717882
Variant Present in the following documents:
  • 12933_2023_Article_1752.pdf
View BVdb publication page



FinnGen provides genetic insights from a well-phenotyped isolated population.

Nature
Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A
Publication Date: 2023-01

Variant appearance in text: PCSK9: Arg46Leu; rs11591147
PubMed Link: 36653562
Variant Present in the following documents:
  • 41586_2022_5473_MOESM4_ESM.xlsx, sheet 8
  • 41586_2022_5473_MOESM4_ESM.xlsx, sheet 11
View BVdb publication page



Effects of PCSK9 Inhibition on Coronary Atherosclerosis Regression of Nontarget Lesions after Primary Percutaneous Coronary Intervention in Acute Coronary Syndrome Patients.

Journal Of Interventional Cardiology
Li, Yongjun Y; Yang, Mingming M; Chen, Xi X; Zhang, Rui R; Li, Jing J; Zhang, Xiaoguo X; Zuo, Pengfei P; Ma, Genshan G
Publication Date: 2022

Variant appearance in text: PCSK9: R46L
PubMed Link: 36632288
Variant Present in the following documents:
  • JITC2022-4797529.pdf
View BVdb publication page



Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.

Genome Biology
Kanoni, Stavroula S; Graham, Sarah E SE; Wang, Yuxuan Y; Surakka, Ida I; Ramdas, Shweta S; Zhu, Xiang X; Clarke, Shoa L SL; Bhatti, Konain Fatima KF; Vedantam, Sailaja S; Winkler, Thomas W TW; Locke, Adam E AE; Marouli, Eirini E; Zajac, Greg J M GJM; Wu, Kuan-Han H KH; Ntalla, Ioanna I; Hui, Qin Q; Klarin, Derek D; Hilliard, Austin T AT; Wang, Zeyuan Z; Xue, Chao C; Thorleifsson, Gudmar G; Helgadottir, Anna A; Gudbjartsson, Daniel F DF; Holm, Hilma H; Olafsson, Isleifur I; Hwang, Mi Yeong MY; Han, Sohee S; Akiyama, Masato M; Sakaue, Saori S; Terao, Chikashi C; Kanai, Masahiro M; Zhou, Wei W; Brumpton, Ben M BM; Rasheed, Humaira H; Havulinna, Aki S AS; Veturi, Yogasudha Y; Pacheco, Jennifer Allen JA; Rosenthal, Elisabeth A EA; Lingren, Todd T; Feng, QiPing Q; Kullo, Iftikhar J IJ; Narita, Akira A; Takayama, Jun J; Martin, Hilary C HC; Hunt, Karen A KA; Trivedi, Bhavi B; Haessler, Jeffrey J; Giulianini, Franco F; Bradford, Yuki Y; Miller, Jason E JE; Campbell, Archie A; Lin, Kuang K; Millwood, Iona Y IY; Rasheed, Asif A; Hindy, George G; Faul, Jessica D JD; Zhao, Wei W; Weir, David R DR; Turman, Constance C; Huang, Hongyan H; Graff, Mariaelisa M; Choudhury, Ananyo A; Sengupta, Dhriti D; Mahajan, Anubha A; Brown, Michael R MR; Zhang, Weihua W; Yu, Ketian K; Schmidt, Ellen M EM; Pandit, Anita A; Gustafsson, Stefan S; Yin, Xianyong X; Luan, Jian'an J; Zhao, Jing-Hua JH; Matsuda, Fumihiko F; Jang, Hye-Mi HM; Yoon, Kyungheon K; Medina-Gomez, Carolina C; Pitsillides, Achilleas A; Hottenga, Jouke Jan JJ; Wood, Andrew R AR; Ji, Yingji Y; Gao, Zishan Z; Haworth, Simon S; Yousri, Noha A NA; Mitchell, Ruth E RE; Chai, Jin Fang JF; Aadahl, Mette M; Bjerregaard, Anne A AA; Yao, Jie J; Manichaikul, Ani A; Hwu, Chii-Min CM; Hung, Yi-Jen YJ; Warren, Helen R HR; Ramirez, Julia J; Bork-Jensen, Jette J; Kårhus, Line L LL; Goel, Anuj A; Sabater-Lleal, Maria M; Noordam, Raymond R; Mauro, Pala P; Matteo, Floris F; McDaid, Aaron F AF; Marques-Vidal, Pedro P; Wielscher, Matthias M; Trompet, Stella S; Sattar, Naveed N; Møllehave, Line T LT; Munz, Matthias M; Zeng, Lingyao L; Huang, Jianfeng J; Yang, Bin B; Poveda, Alaitz A; Kurbasic, Azra A; Lamina, Claudia C; Forer, Lukas L; Scholz, Markus M; Galesloot, Tessel E TE; Bradfield, Jonathan P JP; Ruotsalainen, Sanni E SE; Daw, EWarwick E; Zmuda, Joseph M JM; Mitchell, Jonathan S JS; Fuchsberger, Christian C; Christensen, Henry H; Brody, Jennifer A JA; Vazquez-Moreno, Miguel M; Feitosa, Mary F MF; Wojczynski, Mary K MK; Wang, Zhe Z; Preuss, Michael H MH; Mangino, Massimo M; Christofidou, Paraskevi P; Verweij, Niek N; Benjamins, Jan W JW; Engmann, Jorgen J; Tsao, Noah L NL; Verma, Anurag A; Slieker, Roderick C RC; Lo, Ken Sin KS; Zilhao, Nuno R NR; Le, Phuong P; Kleber, Marcus E ME; Delgado, Graciela E GE; Huo, Shaofeng S; Ikeda, Daisuke D DD; Iha, Hiroyuki H; Yang, Jian J; Liu, Jun J; Demirkan, Ayşe A; Leonard, Hampton L HL; Marten, Jonathan J; Frank, Mirjam M; Schmidt, Börge B; Smyth, Laura J LJ; Cañadas-Garre, Marisa M; Wang, Chaolong C; Nakatochi, Masahiro M; Wong, Andrew A; Hutri-Kähönen, Nina N; Sim, Xueling X; Xia, Rui R; Huerta-Chagoya, Alicia A; Fernandez-Lopez, Juan Carlos JC; Lyssenko, Valeriya V; Nongmaithem, Suraj S SS; Bayyana, Swati S; Stringham, Heather M HM; Irvin, Marguerite R MR; Oldmeadow, Christopher C; Kim, Han-Na HN; Ryu, Seungho S; Timmers, Paul R H J PRHJ; Arbeeva, Liubov L; Dorajoo, Rajkumar R; Lange, Leslie A LA; Prasad, Gauri G; Lorés-Motta, Laura L; Pauper, Marc M; Long, Jirong J; Li, Xiaohui X; Theusch, Elizabeth E; Takeuchi, Fumihiko F; Spracklen, Cassandra N CN; Loukola, Anu A; Bollepalli, Sailalitha S; Warner, Sophie C SC; Wang, Ya Xing YX; Wei, Wen B WB; Nutile, Teresa T; Ruggiero, Daniela D; Sung, Yun Ju YJ; Chen, Shufeng S; Liu, Fangchao F; Yang, Jingyun J; Kentistou, Katherine A KA; Banas, Bernhard B; Nardone, Giuseppe Giovanni GG; Meidtner, Karina K; Bielak, Lawrence F LF; Smith, Jennifer A JA; Hebbar, Prashantha P; Farmaki, Aliki-Eleni AE; Hofer, Edith E; Lin, Maoxuan M; Concas, Maria Pina MP; Vaccargiu, Simona S; van der Most, Peter J PJ; Pitkänen, Niina N; Cade, Brian E BE; van der Laan, Sander W SW; Chitrala, Kumaraswamy Naidu KN; Weiss, Stefan S; Bentley, Amy R AR; Doumatey, Ayo P AP; Adeyemo, Adebowale A AA; Lee, Jong Young JY; Petersen, Eva R B ERB; Nielsen, Aneta A AA; Choi, Hyeok Sun HS; Nethander, Maria M; Freitag-Wolf, Sandra S; Southam, Lorraine L; Rayner, Nigel W NW; Wang, Carol A CA; Lin, Shih-Yi SY; Wang, Jun-Sing JS; Couture, Christian C; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Cuellar-Partida, Gabriel G; Vestergaard, Henrik H; Hidalgo, Bertha B; Giannakopoulou, Olga O; Cai, Qiuyin Q; Obura, Morgan O MO; van Setten, Jessica J; Li, Xiaoyin X; Liang, Jingjing J; Tang, Hua H; Terzikhan, Natalie N; Shin, Jae Hun JH; Jackson, Rebecca D RD; Reiner, Alexander P AP; Martin, Lisa Warsinger LW; Chen, Zhengming Z; Li, Liming L; Kawaguchi, Takahisa T; Thiery, Joachim J; Bis, Joshua C JC; Launer, Lenore J LJ; Li, Huaixing H; Nalls, Mike A MA; Raitakari, Olli T OT; Ichihara, Sahoko S; Wild, Sarah H SH; Nelson, Christopher P CP; Campbell, Harry H; Jäger, Susanne S; Nabika, Toru T; Al-Mulla, Fahd F; Niinikoski, Harri H; Braund, Peter S PS; Kolcic, Ivana I; Kovacs, Peter P; Giardoglou, Tota T; Katsuya, Tomohiro T; de Kleijn, Dominique D; de Borst, Gert J GJ; Kim, Eung Kweon EK; Adams, Hieab H H HHH; Ikram, M Arfan MA; Zhu, Xiaofeng X; Asselbergs, Folkert W FW; Kraaijeveld, Adriaan O AO; Beulens, Joline W J JWJ; Shu, Xiao-Ou XO; Rallidis, Loukianos S LS; Pedersen, Oluf O; Hansen, Torben T; Mitchell, Paul P; Hewitt, Alex W AW; Kähönen, Mika M; Pérusse, Louis L; Bouchard, Claude C; Tönjes, Anke A; Chen, Yii-Der Ida YI; Pennell, Craig E CE; Mori, Trevor A TA; Lieb, Wolfgang W; Franke, Andre A; Ohlsson, Claes C; Mellström, Dan D; Cho, Yoon Shin YS; Lee, Hyejin H; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Rhee, Sang Youl SY; Woo, Jeong-Taek JT; Heid, Iris M IM; Stark, Klaus J KJ; Zimmermann, Martina E ME; Völzke, Henry H; Homuth, Georg G; Evans, Michele K MK; Zonderman, Alan B AB; Polasek, Ozren O; Pasterkamp, Gerard G; Hoefer, Imo E IE; Redline, Susan S; Pahkala, Katja K; Oldehinkel, Albertine J AJ; Snieder, Harold H; Biino, Ginevra G; Schmidt, Reinhold R; Schmidt, Helena H; Bandinelli, Stefania S; Dedoussis, George G; Thanaraj, Thangavel Alphonse TA; Kardia, Sharon L R SLR; Peyser, Patricia A PA; Kato, Norihiro N; Schulze, Matthias B MB; Girotto, Giorgia G; Böger, Carsten A CA; Jung, Bettina B; Joshi, Peter K PK; Bennett, David A DA; De Jager, Philip L PL; Lu, Xiangfeng X; Mamakou, Vasiliki V; Brown, Morris M; Caulfield, Mark J MJ; Munroe, Patricia B PB; Guo, Xiuqing X; Ciullo, Marina M; Jonas, Jost B JB; Samani, Nilesh J NJ; Kaprio, Jaakko J; Pajukanta, Päivi P; Tusié-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Adair, Linda S LS; Bechayda, Sonny Augustin SA; de Silva, H Janaka HJ; Wickremasinghe, Ananda R AR; Krauss, Ronald M RM; Wu, Jer-Yuarn JY; Zheng, Wei W; Hollander, Anneke Iden AI; Bharadwaj, Dwaipayan D; Correa, Adolfo A; Wilson, James G JG; Lind, Lars L; Heng, Chew-Kiat CK; Nelson, Amanda E AE; Golightly, Yvonne M YM; Wilson, James F JF; Penninx, Brenda B; Kim, Hyung-Lae HL; Attia, John J; Scott, Rodney J RJ; Rao, D C DC; Arnett, Donna K DK; Hunt, Steven C SC; Walker, Mark M; Koistinen, Heikki A HA; Chandak, Giriraj R GR; Mercader, Josep M JM; Costanzo, Maria C MC; Jang, Dongkeun D; Burtt, Noël P NP; Villalpando, Clicerio Gonzalez CG; Orozco, Lorena L; Fornage, Myriam M; Tai, EShyong E; van Dam, Rob M RM; Lehtimäki, Terho T; Chaturvedi, Nish N; Yokota, Mitsuhiro M; Liu, Jianjun J; Reilly, Dermot F DF; McKnight, Amy Jayne AJ; Kee, Frank F; Jöckel, Karl-Heinz KH; McCarthy, Mark I MI; Palmer, Colin N A CNA; Vitart, Veronique V; Hayward, Caroline C; Simonsick, Eleanor E; van Duijn, Cornelia M CM; Jin, Zi-Bing ZB; Qu, Jia J; Hishigaki, Haretsugu H; Lin, Xu X; März, Winfried W; Gudnason, Vilmundur V; Tardif, Jean-Claude JC; Lettre, Guillaume G; Hart, Leen M 't LM'; Elders, Petra J M PJM; Damrauer, Scott M SM; Kumari, Meena M; Kivimaki, Mika M; van der Harst, Pim P; Spector, Tim D TD; Loos, Ruth J F RJF; Province, Michael A MA; Parra, Esteban J EJ; Cruz, Miguel M; Psaty, Bruce M BM; Brandslund, Ivan I; Pramstaller, Peter P PP; Rotimi, Charles N CN; Christensen, Kaare K; Ripatti, Samuli S; Widén, Elisabeth E; Hakonarson, Hakon H; Grant, Struan F A SFA; Kiemeney, Lambertus A L M LALM; de Graaf, Jacqueline J; Loeffler, Markus M; Kronenberg, Florian F; Gu, Dongfeng D; Erdmann, Jeanette J; Schunkert, Heribert H; Franks, Paul W PW; Linneberg, Allan A; Jukema, J Wouter JW; Khera, Amit V AV; Männikkö, Minna M; Jarvelin, Marjo-Riitta MR; Kutalik, Zoltan Z; Francesco, Cucca C; Mook-Kanamori, Dennis O DO; van Dijk, Ko Willems KW; Watkins, Hugh H; Strachan, David P DP; Grarup, Niels N; Sever, Peter P; Poulter, Neil N; Chuang, Lee-Ming LM; Rotter, Jerome I JI; Dantoft, Thomas M TM; Karpe, Fredrik F; Neville, Matt J MJ; Timpson, Nicholas J NJ; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Khor, Chiea Chuen CC; Li, Hengtong H; Sabanayagam, Charumathi C; Peters, Annette A; Gieger, Christian C; Hattersley, Andrew T AT; Pedersen, Nancy L NL; Magnusson, Patrik K E PKE; Boomsma, Dorret I DI; Willemsen, Allegonda H M AHM; Cupples, LAdrienne L; van Meurs, Joyce B J JBJ; Ghanbari, Mohsen M; Gordon-Larsen, Penny P; Huang, Wei W; Kim, Young Jin YJ; Tabara, Yasuharu Y; Wareham, Nicholas J NJ; Langenberg, Claudia C; Zeggini, Eleftheria E; Kuusisto, Johanna J; Laakso, Markku M; Ingelsson, Erik E; Abecasis, Goncalo G; Chambers, John C JC; Kooner, Jaspal S JS; de Vries, Paul S PS; Morrison, Alanna C AC; Hazelhurst, Scott S; Ramsay, Michèle M; North, Kari E KE; Daviglus, Martha M; Kraft, Peter P; Martin, Nicholas G NG; Whitfield, John B JB; Abbas, Shahid S; Saleheen, Danish D; Walters, Robin G RG; Holmes, Michael V MV; Black, Corri C; Smith, Blair H BH; Baras, Aris A; Justice, Anne E AE; Buring, Julie E JE; Ridker, Paul M PM; Chasman, Daniel I DI; Kooperberg, Charles C; Tamiya, Gen G; Yamamoto, Masayuki M; van Heel, David A DA; Trembath, Richard C RC; Wei, Wei-Qi WQ; Jarvik, Gail P GP; Namjou, Bahram B; Hayes, M Geoffrey MG; Ritchie, Marylyn D MD; Jousilahti, Pekka P; Salomaa, Veikko V; Hveem, Kristian K; Åsvold, Bjørn Olav BO; Kubo, Michiaki M; Kamatani, Yoichiro Y; Okada, Yukinori Y; Murakami, Yoshinori Y; Kim, Bong-Jo BJ; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Zhang, Jifeng J; Chen, YEugene Y; Ho, Yuk-Lam YL; Lynch, Julie A JA; Rader, Daniel J DJ; Tsao, Philip S PS; Chang, Kyong-Mi KM; Cho, Kelly K; O'Donnell, Christopher J CJ; Gaziano, John M JM; Wilson, Peter W F PWF; Frayling, Timothy M TM; Hirschhorn, Joel N JN; Kathiresan, Sekar S; Mohlke, Karen L KL; Sun, Yan V YV; Morris, Andrew P AP; Boehnke, Michael M; Brown, Christopher D CD; Natarajan, Pradeep P; Deloukas, Panos P; Willer, Cristen J CJ; Assimes, Themistocles L TL; Peloso, Gina M GM
Publication Date: 2022-12-27

Variant appearance in text: PCSK9: Arg46Leu; rs11591147
PubMed Link: 36575460
Variant Present in the following documents:
  • Main text
  • 13059_2022_Article_2837.pdf
View BVdb publication page



PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.

Cells
Alannan, Malak M; Seidah, Nabil G NG; Merched, Aksam J AJ
Publication Date: 2022-12-19

Variant appearance in text: PCSK9: R46L
PubMed Link: 36552895
Variant Present in the following documents:
  • Main text
  • cells-11-04132.pdf
View BVdb publication page



PCSK9 inhibition and cholesterol homeostasis in insulin producing β-cells.

Lipids In Health And Disease
Päth, Günter G; Perakakis, Nikolaos N; Mantzoros, Christos S CS; Seufert, Jochen J
Publication Date: 2022-12-16

Variant appearance in text: PCSK9: R46L
PubMed Link: 36527064
Variant Present in the following documents:
  • Main text
  • 12944_2022_Article_1751.pdf
View BVdb publication page



Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

Nature Genetics
Aragam, Krishna G KG; Jiang, Tao T; Goel, Anuj A; Kanoni, Stavroula S; Wolford, Brooke N BN; Atri, Deepak S DS; Weeks, Elle M EM; Wang, Minxian M; Hindy, George G; Zhou, Wei W; Grace, Christopher C; Roselli, Carolina C; Marston, Nicholas A NA; Kamanu, Frederick K FK; Surakka, Ida I; Venegas, Loreto Muñoz LM; Sherliker, Paul P; Koyama, Satoshi S; Ishigaki, Kazuyoshi K; Åsvold, Bjørn O BO; Brown, Michael R MR; Brumpton, Ben B; de Vries, Paul S PS; Giannakopoulou, Olga O; Giardoglou, Panagiota P; Gudbjartsson, Daniel F DF; Güldener, Ulrich U; Haider, Syed M Ijlal SMI; Helgadottir, Anna A; Ibrahim, Maysson M; Kastrati, Adnan A; Kessler, Thorsten T; Kyriakou, Theodosios T; Konopka, Tomasz T; Li, Ling L; Ma, Lijiang L; Meitinger, Thomas T; Mucha, Sören S; Munz, Matthias M; Murgia, Federico F; Nielsen, Jonas B JB; Nöthen, Markus M MM; Pang, Shichao S; Reinberger, Tobias T; Schnitzler, Gavin G; Smedley, Damian D; Thorleifsson, Gudmar G; von Scheidt, Moritz M; Ulirsch, Jacob C JC; , ; , ; Arnar, David O DO; Burtt, Noël P NP; Costanzo, Maria C MC; Flannick, Jason J; Ito, Kaoru K; Jang, Dong-Keun DK; Kamatani, Yoichiro Y; Khera, Amit V AV; Komuro, Issei I; Kullo, Iftikhar J IJ; Lotta, Luca A LA; Nelson, Christopher P CP; Roberts, Robert R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Webb, Thomas R TR; Baras, Aris A; Björkegren, Johan L M JLM; Boerwinkle, Eric E; Dedoussis, George G; Holm, Hilma H; Hveem, Kristian K; Melander, Olle O; Morrison, Alanna C AC; Orho-Melander, Marju M; Rallidis, Loukianos S LS; Ruusalepp, Arno A; Sabatine, Marc S MS; Stefansson, Kari K; Zalloua, Pierre P; Ellinor, Patrick T PT; Farrall, Martin M; Danesh, John J; Ruff, Christian T CT; Finucane, Hilary K HK; Hopewell, Jemma C JC; Clarke, Robert R; Gupta, Rajat M RM; Erdmann, Jeanette J; Samani, Nilesh J NJ; Schunkert, Heribert H; Watkins, Hugh H; Willer, Cristen J CJ; Deloukas, Panos P; Kathiresan, Sekar S; Butterworth, Adam S AS; ,
Publication Date: 2022-12

Variant appearance in text: PCSK9: R46L
PubMed Link: 36474045
Variant Present in the following documents:
  • Main text
  • 41588_2022_Article_1233.pdf
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Linking single nucleotide polymorphisms to signaling blueprints in abdominal aortic aneurysms.

Scientific Reports
Lim, Chrysania C; Pratama, Muhammad Yogi MY; Rivera, Cristobal C; Silvestro, Michele M; Tsao, Philip S PS; Maegdefessel, Lars L; Gallagher, Katherine A KA; Maldonado, Thomas T; Ramkhelawon, Bhama B
Publication Date: 2022-12-05

Variant appearance in text: rs11591147
PubMed Link: 36470918
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_25144.pdf
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Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.

Genome Medicine
Sandholm, Niina N; Hotakainen, Ronja R; Haukka, Jani K JK; Jansson Sigfrids, Fanny F; Dahlström, Emma H EH; Antikainen, Anni A AA; Valo, Erkka E; Syreeni, Anna A; Kilpeläinen, Elina E; Kytölä, Anastasia A; Palotie, Aarno A; Harjutsalo, Valma V; Forsblom, Carol C; Groop, Per-Henrik PH; ,
Publication Date: 2022-11-23

Variant appearance in text: PCSK9: Arg46Leu; rs11591147
PubMed Link: 36419110
Variant Present in the following documents:
  • Main text
  • 13073_2022_Article_1135.pdf
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PCSK9 Inhibition and Risk of Diabetes: Should We Worry?

Current Atherosclerosis Reports
Carugo, Stefano S; Sirtori, Cesare R CR; Corsini, Alberto A; Tokgozoglu, Lale L; Ruscica, Massimiliano M
Publication Date: 2022-11-16

Variant appearance in text: rs11591147
PubMed Link: 36383291
Variant Present in the following documents:
  • Main text
  • 11883_2022_Article_1074.pdf
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Berberine: Ins and outs of a nature-made PCSK9 inhibitor.

Excli Journal
Ataei, Sarina S; Kesharwani, Prashant P; Sahebkar, Amirhossein A
Publication Date: 2022

Variant appearance in text: PCSK9: R46L
PubMed Link: 36381647
Variant Present in the following documents:
  • EXCLI-21-1099.pdf
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Genetic mimicry analysis reveals the specific lipases targeted by the ANGPTL3/ANGPTL8 complex and ANGPTL4.

Journal Of Lipid Research
Landfors, Fredrik F; Chorell, Elin E; Kersten, Sander S
Publication Date: 2022-11-10

Variant appearance in text: rs11591147
PubMed Link: 36372100
Variant Present in the following documents:
  • Main text
  • main.pdf
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Integrated proteomic and metabolomic profile analyses of cardiac valves revealed molecular mechanisms and targets in calcific aortic valve disease.

Frontiers In Cardiovascular Medicine
Fu, Bo B; Wang, Jing J; Wang, Lianqun L; Wang, Qiang Q; Guo, Zhigang Z; Xu, Meilin M; Jiang, Nan N
Publication Date: 2022

Variant appearance in text: PCSK9: R46L
PubMed Link: 36312243
Variant Present in the following documents:
  • fcvm-09-944521.pdf
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Increased Carotid Intima-Media Thickness in Asymptomatic Individuals Is Associated with the PCSK9 (rs2149041) Gene Polymorphism in the Mexican Mestizo Population: Results of the GEA Cohort.

Life (Basel, Switzerland)
Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G; Pérez-Méndez, Óscar Ó; Pérez-Hernández, Nonanzit N; Rodríguez-Pérez, José Manuel JM
Publication Date: 2022-09-30

Variant appearance in text: PCSK9: R46L
PubMed Link: 36294964
Variant Present in the following documents:
  • life-12-01531.pdf
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Identification of a miRSNP Regulatory Axis in Abdominal Aortic Aneurysm by a Network and Pathway-Based Integrative Analysis.

Oxidative Medicine And Cellular Longevity
Liu, Shenrong S; Liao, Yanfen Y; Liu, Changsong C; Zhou, Haobin H; Chen, Gui G; Lu, Weiling W; Huang, Zheng Z
Publication Date: 2022

Variant appearance in text: rs11591147
PubMed Link: 36275900
Variant Present in the following documents:
  • OMCL2022-8776566.pdf
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Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine
Abifadel, Marianne M; Boileau, Catherine C
Publication Date: 2022-10-04

Variant appearance in text: PCSK9: Arg46Leu
PubMed Link: 36196022
Variant Present in the following documents:
  • Main text
  • JOIM-293-144.pdf
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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs11591147
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
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Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Frontiers In Genetics
Ayoub, Carine C; Azar, Yara Y; Maddah, Dina D; Ghaleb, Youmna Y; Elbitar, Sandy S; Abou-Khalil, Yara Y; Jambart, Selim S; Varret, Mathilde M; Boileau, Catherine C; El Khoury, Petra P; Abifadel, Marianne M
Publication Date: 2022

Variant appearance in text: PCSK9: R46L
PubMed Link: 36061186
Variant Present in the following documents:
  • fgene-13-961028.pdf
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Lipoprotein(a) in Cardiovascular Diseases: Insight From a Bibliometric Study.

Frontiers In Public Health
Šuran, David D; Blažun Vošner, Helena H; Završnik, Jernej J; Kokol, Peter P; Sinkovič, Andreja A; Kanič, Vojko V; Kokol, Marko M; Naji, Franjo F; Završnik, Tadej T
Publication Date: 2022

Variant appearance in text: PCSK9: R46L
PubMed Link: 35865239
Variant Present in the following documents:
  • Main text
  • fpubh-10-923797.pdf
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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology
Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC
Publication Date: 2022-07-08

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 35802478
Variant Present in the following documents:
  • noac171_suppl_suplementary_table_s7.xlsx, sheet 1
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Association of genetic polymorphisms of PCSK9 with type 2 diabetes in Uygur Chinese population.

Bmc Cardiovascular Disorders
Wang, Meng-Meng MM; Lu, Chen-Fei CF; Yan, Shi-Qi SQ; Wang, Bao-Zhu BZ; Yesitayi, Gulinazi G; Tian, Yong-Liang YL; Xiang-Ma, ; Ma, Yi-Tong YT
Publication Date: 2022-06-22

Variant appearance in text: rs11591147
PubMed Link: 35733117
Variant Present in the following documents:
  • 12872_2022_Article_2710.pdf
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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: PCSK9: R46L; rs11591147
PubMed Link: 35501368
Variant Present in the following documents:
  • Main text
  • 41431_2022_Article_1107.pdf
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Weighted Co-Expression Network Analysis Identifies RNF181 as a Causal Gene of Coronary Artery Disease.

Frontiers In Genetics
Dang, Ruoyu R; Qu, Bojian B; Guo, Kaimin K; Zhou, Shuiping S; Sun, He H; Wang, Wenjia W; Han, Jihong J; Feng, Ke K; Lin, Jianping J; Hu, Yunhui Y
Publication Date: 2021

Variant appearance in text: PCSK9: Arg46Leu; rs11591147
PubMed Link: 35222523
Variant Present in the following documents:
  • Main text
  • fgene-12-818813.pdf
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Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.

International Journal Of Molecular Sciences
Grewal, Thomas T; Buechler, Christa C
Publication Date: 2022-01-19

Variant appearance in text: PCSK9: R46L
PubMed Link: 35162992
Variant Present in the following documents:
  • Main text
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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: rs11591147
PubMed Link: 35151363
Variant Present in the following documents:
  • Main text
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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: rs11591147
PubMed Link: 35151363
Variant Present in the following documents:
  • Main text
View BVdb publication page



Machine Learning Revealed Ferroptosis Features and a Novel Ferroptosis-Based Classification for Diagnosis in Acute Myocardial Infarction.

Frontiers In Genetics
Huang, Dan D; Zheng, Shiya S; Liu, Zhuyuan Z; Zhu, Kongbo K; Zhi, Hong H; Ma, Genshan G
Publication Date: 2022

Variant appearance in text: rs11591147
PubMed Link: 35145551
Variant Present in the following documents:
  • Main text
  • fgene-13-813438.pdf
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Genetic Predisposition to Low-Density Lipoprotein Cholesterol May Increase Risks of Both Individual and Familial Alzheimer's Disease.

Frontiers In Medicine
Tan, Jiang-Shan JS; Hu, Meng-Jin MJ; Yang, Yan-Min YM; Yang, Yue-Jin YJ
Publication Date: 2021

Variant appearance in text: rs11591147
PubMed Link: 35087849
Variant Present in the following documents:
  • Main text
  • fmed-08-798334.pdf
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A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

International Journal Of Molecular Sciences
Uribe, Kepa B KB; Chemello, Kevin K; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Bourane, Steeve S; Jaafar, Ali K AK; Lambert, Gilles G; Martín, César C
Publication Date: 2021-12-18

Variant appearance in text: PCSK9: R46L
PubMed Link: 34948399
Variant Present in the following documents:
  • Main text
  • ijms-22-13602.pdf
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A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

International Journal Of Molecular Sciences
Uribe, Kepa B KB; Chemello, Kevin K; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Bourane, Steeve S; Jaafar, Ali K AK; Lambert, Gilles G; Martín, César C
Publication Date: 2021-12-18

Variant appearance in text: PCSK9: R46L
PubMed Link: 34948399
Variant Present in the following documents:
  • Main text
  • ijms-22-13602.pdf
View BVdb publication page



Association Between Circulating Proprotein Convertase Subtilisin/Kexin Type 9 Concentrations and Cardiovascular Events in Cardiovascular Disease: A Systemic Review and Meta-Analysis.

Frontiers In Cardiovascular Medicine
Liu, Jiahui J; Fan, Fangfang F; Luo, Xingyu X; Ji, Wenjun W; Liu, Yaokun Y; Zhang, Yan Y; Zheng, Bo B
Publication Date: 2021

Variant appearance in text: PCSK9: R46L
PubMed Link: 34888364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of hepatic steatosis after liver transplantation: a cross-sectional study.

Bmc Gastroenterology
Eshraghian, Ahad A; Moasser, Elham E; Azarpira, Negar N; Fattahi, Mohammad Reza MR; Nikeghbalian, Saman S; Malek-Hosseini, Seyed Ali SA; Geramizadeh, Bita B
Publication Date: 2021-12-07

Variant appearance in text: rs11591147
PubMed Link: 34876018
Variant Present in the following documents:
  • Main text
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Gene Therapy for Cardiovascular Disease: Basic Research and Clinical Prospects.

Frontiers In Cardiovascular Medicine
Cao, Genmao G; Xuan, Xuezhen X; Zhang, Ruijing R; Hu, Jie J; Dong, Honglin H
Publication Date: 2021

Variant appearance in text: PCSK9: R46L
PubMed Link: 34805315
Variant Present in the following documents:
  • fcvm-08-760140.pdf
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Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine
Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW
Publication Date: 2021

Variant appearance in text: PCSK9: R46L
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
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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: rs11591147
PubMed Link: 34712689
Variant Present in the following documents:
  • Main text
  • fnut-08-755834.pdf
View BVdb publication page