PMID: 33339817

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature communications
JB Nielsen, O Rom, I Surakka, SE Graham, W Zhou, T Roychowdhury, LG Fritsche, SA Gagliano Taliun, C Sidore, Y Liu, ME Gabrielsen, AH Skogholt, B Wolford, W Overton, Y Zhao, J Chen, H Zhang, WE Hornsby, A Acheampong, A Grooms, A Schaefer, GJM Zajac, L Villacorta, J Zhang, B Brumpton, M Løset, V Rai, PR Lundegaard, MS Olesen, KD Taylor, ND Palmer, YD Chen, SH Choi, SA Lubitz, PT Ellinor, KC Barnes, M Daya, N Rafaels, ST Weiss, J Lasky-Su, RP Tracy, RS Vasan, LA Cupples, RA Mathias, LR Yanek, LC Becker, PA Peyser, LF Bielak, JA Smith, S Aslibekyan, BA Hidalgo, DK Arnett, MR Irvin, JG Wilson, SK Musani, A Correa, SS Rich, X Guo, JI Rotter, BA Konkle, JM Johnsen, AE Ashley-Koch, MJ Telen, VA Sheehan, J Blangero, JE Curran, JM Peralta, C Montgomery, WH Sheu, RH Chung, K Schwander, SM Nouraie, VR Gordeuk, Y Zhang, C Kooperberg, AP Reiner, RD Jackson, ER Bleecker, DA Meyers, X Li, S Das, K Yu, J LeFaive, A Smith, T Blackwell, D Taliun, S Zollner, L Forer, S Schoenherr, C Fuchsberger, A Pandit, M Zawistowski, S Kheterpal, CM Brummett, P Natarajan, D Schlessinger, S Lee, HM Kang, F Cucca, OL Holmen, BO Åsvold, M Boehnke, S Kathiresan, GR Abecasis, YE Chen, CJ Willer, K Hveem
2020-12-18

17 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-10334812-T-C S1PR2 c.770A>G p.Tyr257Cys Missense 2/2 -
11-5248004-G-T HBB c.118C>A p.Gln40Lys Missense 2/3 -
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
11-5248004-G-A HBB c.118C>T p.Gln40* Nonsense 2/3 -
8-19819724-C-G LPL c.1421C>G p.Ser474* Nonsense 9/10 -
15-58838104-CG-CGCG LIPC c.738_739dup p.Gly247Alafs*12 Frameshift 5/9 -
8-145732180-G-C GPT c.1354G>C p.Val452Leu Missense 10/11 -
1-21889741-G-A ALPL c.436G>A p.Glu146Lys Missense 5/12 -
2-21236251-G-C APOB c.3997C>G p.Arg1333Gly Missense 25/29 -
2-21236251-G-A APOB c.3997C>T p.Arg1333* Nonsense 25/29 -
2-21230480-C-T APOB c.9260G>A p.Trp3087* Nonsense 26/29 -
19-37038193-T-A ZNF529 c.1267A>T p.Lys423* Nonsense 5/5 -
6-24450123-G-T GPLD1 c.1340C>A p.Ser447* Nonsense 15/25 -
6-24450123-G-C GPLD1 c.1340C>G p.Ser447* Nonsense 15/25 -
11-5248004-G-C HBB c.118C>G p.Gln40Glu Missense 2/3 -
14-94844947-C-T SERPINA1 c.1096G>A p.Glu366Lys Missense 5/5 -
1-55505713-C-A PCSK9 c.203C>A p.Ala68Asp Missense 1/12 -