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A Novel A-Kinase-Anchoring Protein 9 Variant in Premature Coronary Artery Disease: A Case Series
Yuemiao Jiao1, Minxian Wang2,3, Guifen Qiang4
1Department of Interventional Center of Valvular Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Insights
A genetic variant in the AKAP9 gene (c.6406C>G) is linked to familial premature coronary artery disease (CAD) in a Chinese pedigree. This AKAP9 variant may be a causal factor for premature CAD in this population.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- Familial premature coronary artery disease (CAD) is frequently linked to specific genetic variations.
- Investigating genetic factors is crucial for understanding the etiology of early-onset heart disease.
Purpose of the Study:
- To identify potential causal genetic variants associated with premature coronary artery disease (CAD) within a Chinese family.
- To explore the genetic underpinnings of familial premature CAD.
Main Methods:
- Whole-exome sequencing (WES) was conducted on six family members (four with premature CAD, two controls).
- Candidate variant validation was performed using Sanger sequencing in four family members.
- Functional analysis was employed to assess the impact of the identified variant.
Main Results:
- A significant linkage was found between the c.6406C>G variant in the AKAP9 gene and premature CAD in the studied pedigree.
- The c.6406C>G variant in AKAP9 was observed to reduce the interaction between AKAP9 and PRKAR2A.
- This genetic association was specifically identified in patients with premature CAD.
Conclusions:
- The c.6406C>G variant within the AKAP9 gene is suggested as a potential causal factor for premature coronary artery disease (CAD).
- These findings highlight the role of AKAP9 genetic variations in the development of premature CAD within the Chinese population.
Background:
Familial premature coronary artery disease (CAD) is often associated with genetic variants. This study investigated potential causal variants in a Chinese pedigree with premature CAD.
Methods:
In total, nine family members were included in the study (six CAD patients and three unaffected controls). Whole-exome sequencing (WES) was performed on six family members (including four patients and two unaffected controls), and the candidate variant was further validated by Sanger sequencing in four individuals.
Results:
A strong linkage between c.6406C>G (p.Gln2136Glu; NM_005751.5) in AKAP9 (A-KINASE ANCHOR PROTEIN 9; OMIM 604001) and premature CAD was detected in the pedigree. Functional analysis revealed that the c.6406C>G variant in AKAP9 decreased the interaction between AKAP9 and PRKAR2A. This association was first detected in premature CAD patients.
Conclusions:
Our findings indicate that c.6406C>G in the AKAP9 gene could be a causal variant for premature CAD in the Chinese population.
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