Trans-interaction of risk loci 6p24.1 and 10q11.21 is associated with endothelial damage in coronary artery disease

Tay, Kai Yi; Wu, Kan; Chioh, Florence Wen Jing; Autio, Matias; Pek, Nicole Min Qian; Narmada, Balakrishnan Chakrapani; Tan, Sze‐Yen; Low, Adrian; Lian, Michelle Mulan; Chew, Elaine Guo Yan; Lau, Hwee Hui; Kao, Shih Ling; Teo, Adrian Kee Keong; Foo, Jia Nee; Foo, Roger; Heng, Chew-Kiat; Chan, Mark; Cheung, Christine

doi:10.1016/j.atherosclerosis.2022.10.012

Cited by 3 publications

(1 citation statement)

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“…For the non-coding genome, this can be applied to SNPs located within, or neighbouring, CREs. For example, the consequences of rs6903956-targeted CRISPRko highlighted the relationship between the risk allele and endothelial injury via a weak promoter of CXCL12 [ 100 ]. In a similar study, the CRISPR-mediated deletion of the enhancer overlapping a SMAD3 intronic SNP, rs17293632, resulted in the significant reduction in SMAD3 expression in ECs [ 97 ].…”

Section: Characterisation Of Functional Vascular Cad Variantsmentioning

confidence: 99%

The Genetics of Coronary Artery Disease: A Vascular Perspective

Quaye,

Dalzell,

Deloukas

et al. 2023

Cells

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Genome-wide association studies (GWAS) have identified a large number of genetic loci for coronary artery disease (CAD), with many located close to genes associated with traditional CAD risk pathways, such as lipid metabolism and inflammation. It is becoming evident with recent CAD GWAS meta-analyses that vascular pathways are also highly enriched and present an opportunity for novel therapeutics. This review examines GWAS-enriched vascular gene loci, the pathways involved and their potential role in CAD pathogenesis. The functionality of variants is explored from expression quantitative trait loci, massively parallel reporter assays and CRISPR-based gene-editing tools. We discuss how this research may lead to novel therapeutic tools to treat cardiovascular disorders.

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Section: Characterisation Of Functional Vascular Cad Variantsmentioning

confidence: 99%