• English
    • íslenska
  • English 
    • English
    • íslenska
  • Login
View Item 
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Browse

All of HirslaCommunitiesAuthorsTitleSubjectsSubject (MeSH)Issue DateJournalThis CollectionAuthorsTitleSubjectsSubject (MeSH)Issue DateJournal

My Account

LoginRegister

Local Links

FAQ - (Icelandic)FAQ - (English)Hirsla LogosAbout LandspitaliLSH Home PageLibrary HomeIcelandic Journals

Statistics

Display statistics

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.

  • CSV
  • RefMan
  • EndNote
  • BibTex
  • RefWorks
Average rating
 
   votes
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item. When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
 
Your vote was cast
Thank you for your feedback
Authors
Nioi, Paul
Sigurdsson, Asgeir
Thorleifsson, Gudmar
Helgason, Hannes
Agustsdottir, Arna B
Norddahl, Gudmundur L
Helgadottir, Anna
Magnusdottir, Audur
Jonasdottir, Aslaug
Gretarsdottir, Solveig
Jonsdottir, Ingileif
Steinthorsdottir, Valgerdur
Rafnar, Thorunn
Swinkels, Dorine W
Galesloot, Tessel E
Grarup, Niels
Jørgensen, Torben
Vestergaard, Henrik
Hansen, Torben
Lauritzen, Torsten
Linneberg, Allan
Friedrich, Nele
Krarup, Nikolaj T
Fenger, Mogens
Abildgaard, Ulrik
Hansen, Peter R
Galløe, Anders M
Braund, Peter S
Nelson, Christopher P
Hall, Alistair S
Williams, Michael J A
van Rij, Andre M
Jones, Gregory T
Patel, Riyaz S
Levey, Allan I
Hayek, Salim
Shah, Svati H
Reilly, Muredach
Eyjolfsson, Gudmundur I
Sigurdardottir, Olof
Olafsson, Isleifur
Kiemeney, Lambertus A
Quyyumi, Arshed A
Rader, Daniel J
Kraus, William E
Samani, Nilesh J
Pedersen, Oluf
Thorgeirsson, Gudmundur
Masson, Gisli
Holm, Hilma
Gudbjartsson, Daniel
Sulem, Patrick
Thorsteinsdottir, Unnur
Stefansson, Kari
Show allShow less
Issue Date
2016-06-02

Metadata
Show full item record
Citation
Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease. 2016, 374 (22):2131-41 N. Engl. J. Med.
Abstract
Several sequence variants are known to have effects on serum levels of non-high-density lipoprotein (HDL) cholesterol that alter the risk of coronary artery disease.
We sequenced the genomes of 2636 Icelanders and found variants that we then imputed into the genomes of approximately 398,000 Icelanders. We tested for association between these imputed variants and non-HDL cholesterol levels in 119,146 samples. We then performed replication testing in two populations of European descent. We assessed the effects of an implicated loss-of-function variant on the risk of coronary artery disease in 42,524 case patients and 249,414 controls from five European ancestry populations. An augmented set of genomes was screened for additional loss-of-function variants in a target gene. We evaluated the effect of an implicated variant on protein stability.
We found a rare noncoding 12-base-pair (bp) deletion (del12) in intron 4 of ASGR1, which encodes a subunit of the asialoglycoprotein receptor, a lectin that plays a role in the homeostasis of circulating glycoproteins. The del12 mutation activates a cryptic splice site, leading to a frameshift mutation and a premature stop codon that renders a truncated protein prone to degradation. Heterozygous carriers of the mutation (1 in 120 persons in our study population) had a lower level of non-HDL cholesterol than noncarriers, a difference of 15.3 mg per deciliter (0.40 mmol per liter) (P=1.0×10(-16)), and a lower risk of coronary artery disease (by 34%; 95% confidence interval, 21 to 45; P=4.0×10(-6)). In a larger set of sequenced samples from Icelanders, we found another loss-of-function ASGR1 variant (p.W158X, carried by 1 in 1850 persons) that was also associated with lower levels of non-HDL cholesterol (P=1.8×10(-3)).
ASGR1 haploinsufficiency was associated with reduced levels of non-HDL cholesterol and a reduced risk of coronary artery disease. (Funded by the National Institutes of Health and others.).
Description
To access publisher's full text version of this article click on the hyperlink at the bottom of the page
Additional Links
http://dx.doi.org/ 10.1056/NEJMoa1508419
http://www.nejm.org/doi/pdf/10.1056/NEJMoa1508419
Rights
Archived with thanks to The New England journal of medicine
ae974a485f413a2113503eed53cd6c53
10.1056/NEJMoa1508419
Scopus Count
Collections
English Journal Articles (Peer Reviewed)

entitlement

Related articles

  • ASGR1 - a new target for lowering non-HDL cholesterol.
  • Authors: Hassan M, Wagdy K
  • Issue date: 2016 Jun 30
  • Common gene variants in ASGR1 gene locus associate with reduced cardiovascular risk in absence of pleiotropic effects.
  • Authors: Ali L, Cupido AJ, Rijkers M, Hovingh GK, Holleboom AG, Dallinga-Thie GM, Stroes ESG, van den Boogert MAW
  • Issue date: 2020 Aug
  • Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
  • Authors: Dewey FE, Gusarova V, O'Dushlaine C, Gottesman O, Trejos J, Hunt C, Van Hout CV, Habegger L, Buckler D, Lai KM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Ledbetter DH, Penn J, Lopez A, Borecki IB, Overton JD, Reid JG, Carey DJ, Murphy AJ, Yancopoulos GD, Baras A, Gromada J, Shuldiner AR
  • Issue date: 2016 Mar 24
  • Inactivating mutations in NPC1L1 and protection from coronary heart disease.
  • Authors: Myocardial Infarction Genetics Consortium Investigators., Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, Asselta R, Merlini PA, Marziliano N, Notarangelo MF, Schick U, Auer P, Assimes TL, Reilly M, Wilensky R, Rader DJ, Hovingh GK, Meitinger T, Kessler T, Kastrati A, Laugwitz KL, Siscovick D, Rotter JI, Hazen SL, Tracy R, Cresci S, Spertus J, Jackson R, Schwartz SM, Natarajan P, Crosby J, Muzny D, Ballantyne C, Rich SS, O'Donnell CJ, Abecasis G, Sunaev S, Nickerson DA, Buring JE, Ridker PM, Chasman DI, Austin E, Kullo IJ, Weeke PE, Shaffer CM, Bastarache LA, Denny JC, Roden DM, Palmer C, Deloukas P, Lin DY, Tang ZZ, Erdmann J, Schunkert H, Danesh J, Marrugat J, Elosua R, Ardissino D, McPherson R, Watkins H, Reiner AP, Wilson JG, Altshuler D, Gibbs RA, Lander ES, Boerwinkle E, Gabriel S, Kathiresan S
  • Issue date: 2014 Nov 27
  • Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.
  • Authors: Björnsson E, Thorleifsson G, Helgadóttir A, Guðnason T, Guðbjartsson T, Andersen K, Grétarsdóttir S, Ólafsson Í, Tragante V, Ólafsson ÓH, Jónsdóttir B, Eyjólfsson GI, Sigurðardóttir Ó, Thorgeirsson G, Guðbjartsson DF, Thorsteinsdóttir U, Hólm H, Stefánsson K
  • Issue date: 2020 Jan 1

DSpace software (copyright © 2002 - 2022)  DuraSpace
Quick Guide | Contact Us
Open Repository is a service operated by 
Atmire NV
 

Export search results

The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.