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Detection of m

Xing-Bo Mo1,2,3, Shu-Feng Lei1,2,3, Yong-Hong Zhang1,3

  • 1Jiangsu Key Laboratory of Preventive & Translational Medicine for Geriatric Diseases, Soochow University, 199 Renai Road, Suzhou, Jiangsu 215123, PR China.

Epigenomics
|September 18, 2018
PubMed
Abstract

Insights

This study identified numerous m6A-single nucleotide polymorphisms (SNPs) linked to coronary artery disease (CAD). One key SNP, rs12286, influences m6A methylation and ADAMTS7 gene expression, offering insights into CAD development.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiovascular Research

Background:

  • Coronary artery disease (CAD) is a leading cause of mortality worldwide.
  • The role of RNA methylation, specifically N6-methyladenosine (m6A), in CAD pathogenesis is an emerging area of research.
  • Single nucleotide polymorphisms (SNPs) can influence gene expression and disease susceptibility.

Purpose of the Study:

  • To investigate the association between m6A-SNPs and the risk of developing coronary artery disease (CAD).
  • To explore the functional implications of identified m6A-SNPs in the context of CAD.
  • To identify specific genetic variants that may contribute to CAD through alterations in m6A methylation patterns.

Main Methods:

  • Examined the association of m6A-SNPs with CAD in a large cohort of approximately 185,000 cases and controls.
  • Performed expression quantitative trait loci (eQTL) analyses to link genetic variants to gene expression.
  • Conducted differential expression analyses to identify genes with altered expression levels in CAD.

Main Results:

  • Identified 304 m6A-SNPs significantly associated with CAD (p < 0.05) out of 4390 detected m6A-SNPs.
  • SNP rs12286 showed a genome-wide significant association with CAD (p = 4.5 × 10-9).
  • rs12286 was predicted to affect m6A methylation and alter regulatory motif binding, potentially impacting ADAMTS7 gene expression (p = 1.26 × 10-8).

Conclusions:

  • The study identified a substantial number of m6A-SNPs associated with coronary artery disease.
  • Demonstrated the potential functional relevance of these identified SNPs in the context of CAD.
  • Highlights the role of m6A methylation modifications influenced by genetic variations in CAD etiology.
Keywords:
ADAMTS7FTOcoronary artery diseaseeQTLgene expressiongenome-wide association studym6Amultifunctional variantssingle nucleotide polymorphismtranscription regulation

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