Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population.

Disease Markers
Asma Naseer CheemaM Ilyas Kamboh

Abstract

Genome-wide association studies (GWAS) of coronary artery disease (CAD) have revealed multiple genetic risk loci. We assessed the association of 47 genome-wide significant single-nucleotide polymorphisms (SNPs) at 43 CAD loci with coronary stenosis in a Pakistani sample comprising 663 clinically ascertained and angiographically confirmed cases. Genotypes were determined using the iPLEX Gold technology. All statistical analyses were performed using R software. Linkage disequilibrium (LD) between significant SNPs was determined using SNAP web portal, and functional annotation of SNPs was performed using the RegulomeDB and Genotype-Tissue Expression (GTEx) databases. Genotyping comparison was made between cases with severe stenosis (≥70%) and mild/minimal stenosis (<30%). Five SNPs demonstrated significant associations: three with additive genetic models PLG/rs4252120 (p = 0.0078), KIAA1462/rs2505083 (p = 0.005), and SLC22A3/rs2048327 (p = 0.045) and two with recessive models SORT1/rs602633 (p = 0.005) and UBE2Z/rs46522 (p = 0.03). PLG/rs4252120 was in LD with two functional PLG variants (rs4252126 and rs4252135), each with a RegulomeDB score of 1f. Likewise, KIAA1462/rs2505083 was in LD with a functional SNP, KIAA1462/rs3739998, ...Continue Reading

References

Oct 27, 2007·Biochimica Et Biophysica Acta·Yann Wallez, Philippe Huber
Nov 1, 2008·Bioinformatics·Andrew D JohnsonPaul I W de Bakker
Jun 11, 2009·JAMA : the Journal of the American Medical Association·Pia R KamstrupBørge G Nordestgaard
May 1, 2010·Annals of Medicine·Riitta SallinenUNKNOWN Finnish Diabetic Nephropathy Study Group
Sep 10, 2010·The Journal of Clinical Endocrinology and Metabolism·Christiane L HaaseRuth Frikke-Schmidt
Nov 23, 2010·European Heart Journal·Jeanette ErdmannHeribert Schunkert
Sep 3, 2011·Biochemical and Biophysical Research Communications·Masaya AkashiMikio Furuse
Sep 8, 2012·Genome Research·Alan P BoyleMichael Snyder
Nov 10, 2012·Nature Biotechnology·Lucas D Ward, Manolis Kellis
Dec 4, 2012·Nature Genetics·Panos DeloukasNilesh J Samani
Jan 21, 2014·Cardiology in Review·Georgios ChristodoulidisConstantine E Kosmas
Nov 18, 2014·The Journal of Clinical Investigation·Martin B MortensenJacob F Bentzon
Dec 4, 2014·Circulation. Cardiovascular Genetics·Arne S SchaeferStefan Schreiber
Jan 17, 2015·Circulation Research·Kevin M PatelDaniel J Rader
Apr 18, 2015·BioMed Research International·Asma Naseer CheemaM Ilyas Kamboh
Aug 25, 2015·Nature Methods·Jian Zhou, Olga G Troyanskaya
Feb 4, 2016·World Journal of Cardiology·Xuming DaiMarschall S Runge
Feb 16, 2016·Trends in Cardiovascular Medicine·Marco WitkowskiUrsula Rauch
Feb 20, 2016·Circulation Research·Ruth McPherson, Anne Tybjaerg-Hansen
Feb 18, 2017·Journal of the American College of Cardiology·Thomas R WebbUNKNOWN Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators
Mar 14, 2017·Nature Reviews. Genetics·Amit V Khera, Sekar Kathiresan
Dec 2, 2017·Arteriosclerosis, Thrombosis, and Vascular Biology·Claudia GoettschElena Aikawa
Dec 9, 2017·Database : the Journal of Biological Databases and Curation·Asma N CheemaM Ilyas Kamboh
Mar 23, 2018·Molecules and Cells·Daniel Hormaechea-AgullaSu Jung Song
Apr 5, 2018·Cardiovascular Research·Jeanette ErdmannHeribert Schunkert

❮ Previous
Next ❯

Methods Mentioned

BETA
genotyping

Software Mentioned

R
RegulomeDB

Related Concepts

Trending Feeds

COVID-19

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.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

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.

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.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

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.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.