PMID: 31664920

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.

BMC cardiovascular disorders
AF Schmidt, MV Holmes, D Preiss, DI Swerdlow, S Denaxas, G Fatemifar, R Faraway, C Finan, D Valentine, Z Fairhurst-Hunter, FP Hartwig, BL Horta, E Hypponen, C Power, M Moldovan, E van Iperen, K Hovingh, I Demuth, K Norman, E Steinhagen-Thiessen, J Demuth, L Bertram, CM Lill, S Coassin, J Willeit, S Kiechl, K Willeit, D Mason, J Wright, R Morris, G Wanamethee, P Whincup, Y Ben-Shlomo, S McLachlan, JF Price, M Kivimaki, C Welch, A Sanchez-Galvez, P Marques-Vidal, A Nicolaides, AG Panayiotou, NC Onland-Moret, YT van der Schouw, G Matullo, G Fiorito, S Guarrera, C Sacerdote, NJ Wareham, C Langenberg, RA Scott, J Luan, M Bobak, S Malyutina, A Pająk, R Kubinova, A Tamosiunas, H Pikhart, N Grarup, O Pedersen, T Hansen, A Linneberg, T Jess, J Cooper, SE Humphries, M Brilliant, T Kitchner, H Hakonarson, DS Carrell, CA McCarty, KH Lester, EB Larson, DR Crosslin, M de Andrade, DM Roden, JC Denny, C Carty, S Hancock, J Attia, E Holliday, R Scott, P Schofield, M O'Donnell, S Yusuf, M Chong, G Pare, P van der Harst, MA Said, RN Eppinga, N Verweij, H Snieder, , T Christen, DO Mook-Kanamori, , S Gustafsson, L Lind, E Ingelsson, R Pazoki, O Franco, A Hofman, A Uitterlinden, A Dehghan, A Teumer, S Baumeister, M Dörr, MM Lerch, U Völker, H Völzke, J Ward, JP Pell, T Meade, IE Christophersen, AH Maitland-van der Zee, EV Baranova, R Young, I Ford, A Campbell, S Padmanabhan, ML Bots, DE Grobbee, P Froguel, D Thuillier, R Roussel, A Bonnefond, B Cariou, M Smart, Y Bao, M Kumari, A Mahajan, JC Hopewell, S Seshadri, , C Dale, RPE Costa, PM Ridker, DI Chasman, AP Reiner, MD Ritchie, LA Lange, AJ Cornish, SE Dobbins, K Hemminki, B Kinnersley, M Sanson, K Labreche, M Simon, M Bondy, P Law, H Speedy, J Allan, N Li, M Went, N Weinhold, G Morgan, P Sonneveld, B Nilsson, H Goldschmidt, A Sud, A Engert, M Hansson, H Hemingway, FW Asselbergs, RS Patel, BJ Keating, N Sattar, R Houlston, JP Casas, AD Hingorani
2019-10-29

4 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -