Publications:

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Genetic and In Vitro Inhibition of PCSK9 and Calcific Aortic Valve Stenosis.

Jacc. Basic To Translational Science

N Perrot, V Valerio, D Moschetta, SM Boekholdt, C Dina, HY Chen, E Abner, A Martinsson, HD Manikpurage, S Rigade, R Capoulade, E Mass, MA Clavel, T Le Tourneau, D Messika-Zeitoun, NJ Wareham, JC Engert, G Polvani, P Pibarot, T Esko, JG Smith, P Mathieu, G Thanassoulis, JJ Schott, Y Bossé, M Camera, S Thériault, P Poggio, BJ Arsenault

Publication Date: 2020-07

Variant appearance in text: rs585131

PubMed Link: 32760854

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.

Jama

J Yarmolinsky, CJ Bull, EE Vincent, J Robinson, A Walther, GD Smith, SJ Lewis, CL Relton, RM Martin

Publication Date: 2020-02-18

Variant appearance in text: rs585131

PubMed Link: 32068819

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lipid lowering and Alzheimer disease risk: A mendelian randomization study.

Annals Of Neurology

DM Williams, C Finan, AF Schmidt, S Burgess, AD Hingorani

Publication Date: 2020-01

Variant appearance in text: rs585131

PubMed Link: 31714636

Variant Present in the following documents:

• ANA-87-30-s001.docx

View BVdb publication page

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Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature

AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer

Publication Date: 2019-08

Variant appearance in text: rs585131

PubMed Link: 31367044

Variant Present in the following documents:

• EMS83607-supplement-Supplementary_Tables.xlsx

View BVdb publication page

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Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.

Scientific Reports

T Guo, RX Yin, LM Yao, F Huang, L Pan, WX Lin, DZ Yang, SL Pan

Publication Date: 2016-11-17

Variant appearance in text: rs585131

PubMed Link: 27853278

Variant Present in the following documents:

• Main text
• srep37375-s1.doc

View BVdb publication page

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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics

I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins

Publication Date: 2015-09-28

Variant appearance in text: PCSK9: 1355-56C>T; rs585131

PubMed Link: 26415676

Variant Present in the following documents:

• 12881_2015_230_MOESM1_ESM.doc

View BVdb publication page

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Genetic variants from lipid-related pathways and risk for incident myocardial infarction.

Plos One

C Song, NL Pedersen, CA Reynolds, M Sabater-Lleal, S Kanoni, C Willenborg, , AC Syvänen, H Watkins, A Hamsten, JA Prince, E Ingelsson

Publication Date: 2013

Variant appearance in text: rs585131

PubMed Link: 23555974

Variant Present in the following documents:

• pone.0060454.s001.pdf

View BVdb publication page

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Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics

K Ding, IJ Kullo

Publication Date: 2008-03

Variant appearance in text: rs585131

PubMed Link: 18300938

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000302118.5	c.1355-56C>T	-	intron_variant	-	8/11
ENST00000490692.1	n.2079-56C>T	-	intron_variant,non_coding_transcript_variant	-	5/7
ENST00000543384.1	c.703-56C>T	-	intron_variant	-	6/9
NM_174936.4	c.1355-56C>T	-	intron_variant	-	8/11
NR_110451.1	n.962-56C>T	-	intron_variant,non_coding_transcript_variant	-	6/9