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Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population
Joint Authors
Ali, Jabar
Feingold, Eleanor
John, Peter
Kamboh, M. Ilyas
Cheema, Asma Naseer
Pirim, Dilek
Wang, Xingbin
Bhatti, Attya
Demirci, F. Yesim
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-06-27
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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, having a RegulomeDB score of 2b.
In the GTEx database, KIAA1462/rs2505083, SLC22A3/rs2048327, SORT1/rs602633, and UBE2Z/rs46522 SNPs were found to be expression quantitative trait loci (eQTLs) in CAD-associated tissues.
In conclusion, five genome-wide significant SNPs previously reported in European GWAS were replicated in the Pakistani sample.
Further association studies on larger non-European populations are needed to understand the worldwide genetic architecture of CAD.
American Psychological Association (APA)
Cheema, Asma Naseer& Pirim, Dilek& Wang, Xingbin& Ali, Jabar& Bhatti, Attya& John, Peter…[et al.]. 2020. Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population. Disease Markers،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1154233
Modern Language Association (MLA)
Cheema, Asma Naseer…[et al.]. Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population. Disease Markers No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1154233
American Medical Association (AMA)
Cheema, Asma Naseer& Pirim, Dilek& Wang, Xingbin& Ali, Jabar& Bhatti, Attya& John, Peter…[et al.]. Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population. Disease Markers. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1154233
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1154233