KIF6 SNP Genetic Testing for Coronary Heart Disease Risk
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Solution Overview
Problem
Current diagnostic and treatment approaches for coronary heart disease (CHD), myocardial infarction (MI), aortic aneurysm, and dissection lack effective genetic markers for early detection, risk assessment, and personalized treatment responses, particularly in asymptomatic individuals and those with variable responses to statin therapy.
Innovation Solution
Identification and utilization of specific single nucleotide polymorphisms (SNPs), such as rs20455 in the kinesin-like protein 6 (KIF6) gene, to predict individual risk for CHD, aneurysm/dissection, and responsiveness to statin treatment, enabling targeted diagnostic and therapeutic interventions.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If genetic markers are used for early detection and risk assessment, then diagnostic accuracy is improved, but the complexity of the diagnostic system increases
Solution Approach 1:
The patent segments the complex genetic diagnostic system into specific, identifiable SNP markers (such as rs20455 in the KIF6 gene) that can be tested individually. This segmentation allows clinicians to focus on key genetic variations without being overwhelmed by the entire genome's complexity, thereby improving diagnostic accuracy while managing system complexity through targeted analysis of specific polymorphic sites
Solution Approach 2:
The patent introduces genetic markers as intermediary elements that mediate between the complex biological systems (genome, gene expression, protein function) and the clinical diagnostic process. These markers serve as accessible, measurable proxies for underlying genetic variations, enabling accurate risk assessment without requiring direct analysis of complex genomic structures
2Reliability
If personalized treatment strategies based on genetic profiles are implemented, then treatment efficacy is improved, but the complexity of treatment planning increases
Solution Approach 1:
The patent applies local quality by tailoring treatment strategies to specific genetic profiles identified through SNP analysis. Instead of uniform treatment approaches, the patent enables customization of statin therapy and other interventions based on individual genetic characteristics (such as KIF6 polymorphisms), thereby improving treatment efficacy while managing complexity through focus on specific genetic determinants rather than the entire genome
Solution Approach 2:
The patent implements preliminary action by conducting genetic testing and risk stratification before initiating treatment. This advance knowledge of genetic profiles allows clinicians to pre-select appropriate treatments and avoid ineffective therapies, improving overall treatment efficacy while reducing the complexity of ongoing treatment adjustments through upfront genetic characterization
3Reliability
If comprehensive genetic testing is performed on all individuals, then early detection capability is improved, but the cost and time requirements increase
Solution Approach 1:
The patent applies partial action by performing targeted genetic testing on specific high-risk SNP markers (such as rs20455) rather than comprehensive whole-genome sequencing. This selective approach captures the essential genetic information needed for early detection of coronary heart disease risk while significantly reducing testing time and costs compared to exhaustive genetic analysis of the entire genome
Solution Approach 2:
The patent extracts and focuses on specific, clinically relevant SNP markers (like the KIF6 rs20455 polymorphism) from the vast genome, isolating these key elements for targeted testing. This extraction approach enables early detection capability by concentrating resources on the most informative genetic variations while avoiding the time and cost burden of analyzing less relevant genomic regions
Data Source
AI summary
The present invention provides compositions and methods based on genetic polymorphisms that are associated with coronary heart disease (particularly myocardial infarction), aneurysm/dissection, and/or response to drug treatment, particularly statin treatment. For example, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by these nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and variant proteins, and methods of using the nucleic acid molecules and proteins as well as methods of using reagents for their detection.