PMID: 27908689

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.

The lancet. Diabetes & endocrinology
AF Schmidt, DI Swerdlow, MV Holmes, RS Patel, Z Fairhurst-Hunter, DM Lyall, FP Hartwig, BL Horta, E Hyppönen, C Power, M Moldovan, E van Iperen, GK Hovingh, I Demuth, K Norman, E Steinhagen-Thiessen, J Demuth, L Bertram, T Liu, 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, R Scott, J Luan, M Bobak, S Malyutina, A Pająk, R Kubinova, A Tamosiunas, H Pikhart, LL Husemoen, N Grarup, O Pedersen, T Hansen, A Linneberg, KS Simonsen, J Cooper, SE Humphries, M Brilliant, T Kitchner, H Hakonarson, DS Carrell, CA McCarty, HL Kirchner, EB Larson, DR Crosslin, M de Andrade, DM Roden, JC Denny, C Carty, S Hancock, J Attia, E Holliday, 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, DJ Smith, T Meade, AH Maitland-van der Zee, EV Baranova, R Young, I Ford, A Campbell, S Padmanabhan, ML Bots, DE Grobbee, P Froguel, D Thuillier, B Balkau, A Bonnefond, B Cariou, M Smart, Y Bao, M Kumari, A Mahajan, PM Ridker, DI Chasman, AP Reiner, LA Lange, MD Ritchie, FW Asselbergs, JP Casas, BJ Keating, D Preiss, AD Hingorani, , N Sattar
2017-02

4 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
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 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -