A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease

Circulation. Cardiovascular Genetics
Philipp S WildStefan Blankenberg


eQTL analyses are important to improve the understanding of genetic association results. We performed a genome-wide association and global gene expression study to identify functionally relevant variants affecting the risk of coronary artery disease (CAD). In a genome-wide association analysis of 2078 CAD cases and 2953 control subjects, we identified 950 single-nucleotide polymorphisms (SNPs) that were associated with CAD at P<10(-3). Subsequent in silico and wet-laboratory replication stages and a final meta-analysis of 21 428 CAD cases and 38 361 control subjects revealed a novel association signal at chromosome 10q23.31 within the LIPA (lysosomal acid lipase A) gene (P=3.7×10(-8); odds ratio, 1.1; 95% confidence interval, 1.07 to 1.14). The association of this locus with global gene expression was assessed by genome-wide expression analyses in the monocyte transcriptome of 1494 individuals. The results showed a strong association of this locus with expression of the LIPA transcript (P=1.3×10(-96)). An assessment of LIPA SNPs and transcript with cardiovascular phenotypes revealed an association of LIPA transcript levels with impaired endothelial function (P=4.4×10(-3)). The use of data on genetic variants and the addition of...Continue Reading


Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Oct 24, 2003·The New England Journal of Medicine·Stefan BlankenbergAtheroGene Investigators
Mar 27, 2004·Thrombosis and Haemostasis·Sucharit BhakdiMatthias Husmann
Aug 1, 2006·Journal of Biochemistry·Oliver ZschenkerDetlev Ameis
Feb 10, 2007·Science·Barbara E StrangerEmmanouil T Dermitzakis
Mar 27, 2007·Bioinformatics·Yurii S AulchenkoCornelia M van Duijn
May 5, 2007·Science·Anna HelgadottirKari Stefansson
May 5, 2007·Science·Ruth McPhersonJonathan C Cohen
Jul 20, 2007·The New England Journal of Medicine·Nilesh J SamaniWTCCC and the Cardiogenics Consortium
Sep 18, 2007·Nature Genetics·Barbara E StrangerEmmanouil T Dermitzakis
Sep 18, 2007·Nature Genetics·Anna L DixonWilliam Cookson
Mar 18, 2008·Nature·Valur EmilssonKari Stefansson
Apr 3, 2008·Annals of Medicine·Thomas MunzelEberhard Schulz
Feb 10, 2009·Nature Genetics·Myocardial Infarction Genetics ConsortiumDavid Altshuler
Feb 10, 2009·Nature Genetics·Jeanette ErdmannHeribert Schunkert
Feb 19, 2009·Nature Reviews. Genetics·William CooksonMark Lathrop
Nov 20, 2009·Nucleic Acids Research·Nuno L Barbosa-MoraisSimon Tavaré
Mar 12, 2010·European Heart Journal·Heribert SchunkertNilesh J Samani


Jun 28, 2012·Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz·P S WildStefan Blankenberg
Oct 2, 2012·Cardiovascular Research·James S WareStuart A Cook
Sep 6, 2013·Current Opinion in Lipidology·Lesca M Holdt, Daniel Teupser
Sep 8, 2012·Genome Research·Marc A SchaubMichael Snyder
Feb 12, 2013·BMC Medical Genetics·Sonali PechlivanisHeinz Nixdorf Recall Study Investigative Group
Dec 12, 2012·Pharmacogenomics·Sophie Visvikis-SiestNdeye Coumba Ndiaye
Aug 19, 2014·The American Journal of Pathology·Susanne LemckeSaleh M Ibrahim
Aug 5, 2014·Nature Immunology·Stanley Ching-Cheng HuangEdward J Pearce
Apr 26, 2013·Current Cardiology Reports·Thorsten KesslerHeribert Schunkert
Feb 21, 2013·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Stuart A ScottRobert J Desnick
Aug 31, 2012·Statistics in Medicine·Silke SzymczakAndreas Ziegler
Jun 28, 2012·IEEE Transactions on Information Technology in Biomedicine : a Publication of the IEEE Engineering in Medicine and Biology Society·Li-Na PuYuan-Ting Zhang
Mar 20, 2012·Cell·Sekar Kathiresan, Deepak Srivastava
Jun 16, 2012·Atherosclerosis·Bram P PrinsJingyuan Fu
Feb 24, 2015·Frontiers in Cell and Developmental Biology·Joshua A Dubland, Gordon A Francis
Sep 24, 2014·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Henna KallionpääDIABIMMUNE Study Group
May 26, 2017·Current Medical Research and Opinion·Ralf Weiskirchen
Jun 8, 2017·Nature Communications·Ismail SerginBabak Razani
Jun 15, 2017·Expert Review of Gastroenterology & Hepatology·Hassan H A-Kader
Mar 31, 2018·Genetic Epidemiology·Pratyaydipta RudraDebashis Ghosh
Mar 11, 2018·Circulation Research·Manon ViaudLaurent Yvan-Charvet
Dec 31, 2011·Arteriosclerosis, Thrombosis, and Vascular Biology·Mireille Ouimet, Yves L Marcel
Mar 11, 2017·Arteriosclerosis, Thrombosis, and Vascular Biology·Gavin E MorrisTom R Webb
Aug 22, 2015·Arteriosclerosis, Thrombosis, and Vascular Biology·Ingrid BrænneLeducq Consortium CAD Genomics‡
May 26, 2017·Arteriosclerosis, Thrombosis, and Vascular Biology·Hanrui Zhang, Muredach P Reilly
Sep 9, 2017·Arteriosclerosis, Thrombosis, and Vascular Biology·Hanrui ZhangMuredach P Reilly
Feb 20, 2016·Circulation Research·Sylvia T NurnbergDaniel J Rader
Sep 5, 2013·Circulation·Wolfgang Lieb, Ramachandran S Vasan
Mar 16, 2013·Arteriosclerosis, Thrombosis, and Vascular Biology·Peggy RobinetJonathan D Smith
Mar 1, 2012·Stroke; a Journal of Cerebral Circulation·Yu-Ching ChengInternational Stroke Genetics Consortium
Jan 20, 2012·Arteriosclerosis, Thrombosis, and Vascular Biology·Seraya Maouche, Heribert Schunkert
Mar 15, 2019·Arteriosclerosis, Thrombosis, and Vascular Biology·Fang Li, Hanrui Zhang
Feb 8, 2018·Current Vascular Pharmacology·Sara Mankoč Ramuš, Daniel Petrovič
Mar 3, 2012·Current Opinion in Cardiology·Robert Roberts, Alexandre F R Stewart
Oct 25, 2019·Arteriosclerosis, Thrombosis, and Vascular Biology·Trent D EvansBabak Razani
Nov 30, 2011·Clinical Chemistry·Tanja ZellerPatrick Diemert
May 9, 2013·Current Opinion in Lipidology·Sigrid W Fouchier, Joep C Defesche
Apr 15, 2014·Molecular Biology Reports·Mona Dverdal JansenPer Magnus
Apr 19, 2015·Current Opinion in Lipidology·Mette Christoffersen, Anne Tybjærg-Hansen
Dec 14, 2011·Expert Review of Cardiovascular Therapy·Eunice YangDavid A Bluemke
May 31, 2017·Herz·W MärzM E Kleber
Jun 21, 2018·Frontiers in Cardiovascular Medicine·Matthias Heinig
May 10, 2018·Frontiers in Cardiovascular Medicine·Wangjing KeChristopher A Haiman
Dec 29, 2019·Biomolecules·Meenashi Vanathi BalashanmugamChanabasayya Vastrad
Apr 1, 2021·Arteriosclerosis, Thrombosis, and Vascular Biology·Joshua A DublandGordon A Francis
Apr 14, 2021·The Indian Journal of Tuberculosis·Deo Kabuye, Angelamellisy Ndibalema
Apr 16, 2021·Frontiers in Cell and Developmental Biology·André R A MarquesOtília V Vieira

Related Concepts

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.

Glut1 Deficiency

Glut1 deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Follow the latest research on Glut1 deficiency with this feed.

Hereditary Sensory Autonomic Neuropathy

Hereditary Sensory Autonomic Neuropathies are a group of inherited neurodegenerative disorders characterized clinically by loss of sensation and autonomic dysfunction. Here is the latest research on these neuropathies.

Separation Anxiety

Separation anxiety is a type of anxiety disorder that involves excessive distress and anxiety with separation. This may include separation from places or people to which they have a strong emotional connection with. It often affects children more than adults. Here is the latest research on separation anxiety.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.