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07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
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Genetic Variants Associated with Supernormal Coronary Arteries
Beomsu Kim1, Chan Joo Lee2, Hong-Hee Won1
1Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center.
Journal of Atherosclerosis and Thrombosis
|July 6, 2022
Summary
Researchers identified genetic variants linked to supernormal coronary arteries in males with high cardiovascular risk. These findings highlight potential therapeutic targets for coronary artery disease.
Area of Science:
- Cardiovascular Genetics
- Genomics
- Precision Medicine
Background:
- Supernormal coronary arteries, a phenotype of healthy individuals with high cardiovascular risk, offer insights into cardioprotection.
- Understanding the genetic basis of this phenotype can inform novel therapeutic strategies for coronary artery disease (CAD).
Purpose of the Study:
- To identify genetic variants associated with the supernormal coronary artery phenotype using genome-wide association study (GWAS) data.
- To determine the corresponding genes influenced by these variants using expression quantitative trait loci (eQTL) analysis.
Main Methods:
- A case-control study design was employed using two Korean cohorts.
- Participants included males with high cardiovascular risk but normal coronary arteries (supernormal group, n=72) and age-matched controls with coronary artery disease (n=94).
- Firth's logistic regression identified associated variants, and eQTL analysis explored gene expression impacts in human tissues.
Main Results:
- Ten independent loci associated with the supernormal coronary artery phenotype were identified (p < 5.0×10⁻⁵).
- Lead variants included intergenic single-nucleotide polymorphisms (SNPs) near PBX1 and intronic SNPs in PPFIA4.
- Specific SNPs (rs9630089, rs6421989, rs4984694) demonstrated associations with the expression of SLIT1, ARHGAP19, PPFIA4, and METTL26, suggesting biological relevance.
Conclusions:
- This study successfully identified genetic variants and eQTL genes linked to the supernormal coronary artery phenotype.
- The findings suggest potential candidate genes that could serve as therapeutic targets for coronary artery disease.
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