Publications:

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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: rs533375

PubMed Link: 31714636

Variant Present in the following documents:

• ANA-87-30-s001.docx

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: PCSK9: 1180+174A>G; rs533375

PubMed Link: 27853278

Variant Present in the following documents:

• Main text
• srep37375-s1.doc

View BVdb publication page

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APOM and high-density lipoprotein cholesterol are associated with lung function and per cent emphysema.

The European Respiratory Journal

KM Burkart, A Manichaikul, JB Wilk, FS Ahmed, GL Burke, P Enright, NN Hansel, D Haynes, SR Heckbert, EA Hoffman, JD Kaufman, J Kurai, L Loehr, SJ London, Y Meng, GT O'Connor, E Oelsner, M Petrini, TD Pottinger, CA Powell, S Redline, JI Rotter, LJ Smith, M Soler Artigas, MD Tobin, MY Tsai, K Watson, W White, TR Young, SS Rich, RG Barr

Publication Date: 2014-04

Variant appearance in text: rs533375

PubMed Link: 23900982

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics

FW Asselbergs, Y Guo, EP van Iperen, S Sivapalaratnam, V Tragante, MB Lanktree, LA Lange, B Almoguera, YE Appelman, J Barnard, J Baumert, AL Beitelshees, TR Bhangale, YD Chen, TR Gaunt, Y Gong, JC Hopewell, T Johnson, ME Kleber, TY Langaee, M Li, YR Li, K Liu, CW McDonough, MF Meijs, RP Middelberg, K Musunuru, CP Nelson, JR O'Connell, S Padmanabhan, JS Pankow, N Pankratz, S Rafelt, R Rajagopalan, SP Romaine, NJ Schork, J Shaffer, H Shen, EN Smith, SE Tischfield, PJ van der Most, JV van Vliet-Ostaptchouk, N Verweij, KA Volcik, L Zhang, KR Bailey, KM Bailey, F Bauer, JM Boer, PS Braund, A Burt, PR Burton, SG Buxbaum, W Chen, RM Cooper-Dehoff, LA Cupples, JS deJong, C Delles, D Duggan, M Fornage, CE Furlong, N Glazer, JG Gums, C Hastie, MV Holmes, T Illig, SA Kirkland, M Kivimaki, R Klein, BE Klein, C Kooperberg, K Kottke-Marchant, M Kumari, AZ LaCroix, L Mallela, G Murugesan, J Ordovas, WH Ouwehand, WS Post, R Saxena, H Scharnagl, PJ Schreiner, T Shah, DC Shields, D Shimbo, SR Srinivasan, RP Stolk, DI Swerdlow, HA Taylor, EJ Topol, E Toskala, JL van Pelt, J van Setten, S Yusuf, JC Whittaker, AH Zwinderman, , SS Anand, AJ Balmforth, GS Berenson, CR Bezzina, BO Boehm, E Boerwinkle, JP Casas, MJ Caulfield, R Clarke, JM Connell, KJ Cruickshanks, KW Davidson, IN Day, PI de Bakker, PA Doevendans, AF Dominiczak, AS Hall, CA Hartman, C Hengstenberg, HL Hillege, MH Hofker, SE Humphries, GP Jarvik, JA Johnson, BM Kaess, S Kathiresan, W Koenig, DA Lawlor, W März, O Melander, BD Mitchell, GW Montgomery, PB Munroe, SS Murray, SJ Newhouse, NC Onland-Moret, N Poulter, B Psaty, S Redline, SS Rich, JI Rotter, H Schunkert, P Sever, AR Shuldiner, RL Silverstein, A Stanton, B Thorand, MD Trip, MY Tsai, P van der Harst, E van der Schoot, YT van der Schouw, WM Verschuren, H Watkins, AA Wilde, BH Wolffenbuttel, JB Whitfield, GK Hovingh, CM Ballantyne, C Wijmenga, MP Reilly, NG Martin, JG Wilson, DJ Rader, NJ Samani, AP Reiner, RA Hegele, JJ Kastelein, AD Hingorani, PJ Talmud, H Hakonarson, CC Elbers, BJ Keating, F Drenos

Publication Date: 2012-11-02

Variant appearance in text: rs533375

PubMed Link: 23063622

Variant Present in the following documents:

• mmc4.xls

View BVdb publication page

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Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics

JA Smith, ST Turner, YV Sun, M Fornage, RJ Kelly, TH Mosley, CR Jack, IJ Kullo, SL Kardia

Publication Date: 2009-04-07

Variant appearance in text: rs533375

PubMed Link: 19351393

Variant Present in the following documents:

• 1755-8794-2-16-S1.xls

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: rs533375

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.1180+174A>G	-	intron_variant	-	7/11
ENST00000490692.1	n.1904+174A>G	-	intron_variant,non_coding_transcript_variant	-	4/7
ENST00000543384.1	c.580+174A>G	-	intron_variant	-	5/9
NM_174936.4	c.1180+174A>G	-	intron_variant	-	7/11
NR_110451.1	n.839+174A>G	-	intron_variant,non_coding_transcript_variant	-	5/9