LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers

PloS One
Eguzkine OchoaAndone Estonba

Abstract

The identification of the genetic risk factors that could discriminate non- thrombotic from thrombotic antiphospholipid antibodies (aPLA) carriers will improve prognosis of these patients. Several human studies have shown the presence of aPLAs associated with atherosclerotic plaque, which is a known risk factor for thrombosis. Hence, in order to determine the implication of atherosclerosis in the risk of developing thrombosis in aPLA positive patients, we performed a genetic association study with 3 candidate genes, APOH, LDLR and PCSK9. For genetic association study we analyzed 190 aPLA carriers -100 with non-thrombotic events and 90 with thrombotic events- and 557 healthy controls. Analyses were performed by χ2 test and were corrected by false discovery rate. To evaluate the functional implication of the newly established susceptibility loci, we performed expression analyses in 86 aPLA carrier individuals (43 with thrombotic manifestations and 43 without it) and in 45 healthy controls. Our results revealed significant associations after correction in SNPs located in LDLR gene with aPLA carriers and thrombotic aPLA carriers, when compared with healthy controls. The most significant association in LDLR gene was found between SN...Continue Reading

References

Jul 1, 1979·Proceedings of the National Academy of Sciences of the United States of America·M S Brown, J L Goldstein
Jan 1, 1979·Annual Review of Genetics·J L Goldstein, M S Brown
Jan 1, 1992·Human Mutation·H H HobbsJ L Goldstein
Jul 2, 2002·Lupus·E N Harris, S S Pierangeli
Apr 5, 2003·Thrombosis Research·Finn WisløffSigurd Liestøl
Feb 14, 2004·European Journal of Internal Medicine·Zohar LevyDror Harats
Aug 7, 2004·Bioinformatics·J C BarrettM J Daly
Oct 28, 2004·Thrombosis Research·Richard C W Wong, UNKNOWN Australasian aCL Working Party
Apr 26, 2006·Proceedings of the National Academy of Sciences of the United States of America·Aleksandar K StanicAmy S Major
Aug 26, 2006·Nature Clinical Practice. Rheumatology·Yaniv Sherer, Yehuda Shoenfeld
Dec 2, 2006·Nature Reviews. Genetics·Peter K Gregersen, Timothy W Behrens
Dec 13, 2006·Lupus·Y LevyY Shoenfeld
May 29, 2007·Current Rheumatology Reports·Mariano E Vega-Ostertag, Silvia S Pierangeli
Feb 26, 2008·Arteriosclerosis, Thrombosis, and Vascular Biology·John A Heit
Apr 26, 2008·Atherosclerosis·Aaron R FolsomUNKNOWN Atherosclerosis Risk in Communities (ARIC) Study Investigators
Oct 18, 2008·La Revue de médecine interne·D SèneP Cacoub
Jan 28, 2009·Current Rheumatology Reports·Eiji MatsuuraLuis R Lopez
Nov 26, 2009·Autoimmunity Reviews·Martina Biggioggero, Pier Luigi Meroni
Sep 9, 2010·Lancet·Guillermo Ruiz-IrastorzaMunther A Khamashta
Dec 25, 2010·Srpski arhiv za celokupno lekarstvo·Dragan M Pavlović, Aleksandra M Pavlović
May 11, 2011·Nature Reviews. Rheumatology·Pier Luigi MeroniFrancesco Tedesco
Sep 8, 2012·Genome Research·Alan P BoyleMichael Snyder
Mar 19, 2013·BMC Medicine·Jorge Cárdenas-RoldánJuan-Manuel Anaya

❮ Previous
Next ❯

Citations

Mar 8, 2017·Current Opinion in Cardiology·Vanessa BianconiMatteo Pirro
Feb 25, 2017·Biochemical and Biophysical Research Communications·Jana GrunePhilipp Stawowy
May 1, 2019·Lipids in Health and Disease·Junlan ChuanMin Peng
Dec 7, 2019·Current Rheumatology Reports·Lourdes Ortiz-Fernández, Amr H Sawalha
Sep 5, 2019·International Journal of Environmental Research and Public Health·Zheng LiLei Yang
Apr 10, 2021·Frontiers in Cardiovascular Medicine·Aureli LuqueroMaria Borrell-Pages

❮ Previous
Next ❯

Methods Mentioned

BETA
ELISA
Genotyping
PCR
Assay

Software Mentioned

Haploview
PLINK
Taqman Genotyper
CaTS
SNP Browser
7900HT

Related Concepts

Related Feeds

Atherosclerosis Disease Progression

Atherosclerosis is the buildup of plaque on artery walls, causing stenosis which can eventually lead to clinically apparent cardiovascular disease. Find the latest research on atherosclerosis disease progression here.

Antiphospholipid Syndrome

Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune, hypercoagulable state caused by the presence of antibodies directed against phospholipids.