SNP Panel for Coronary Heart Disease Risk Prediction

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Solution Overview

Problem

Current diagnostic methods for coronary heart disease (CHD) and myocardial infarction (MI) are inadequate for early detection and prognosis, particularly for asymptomatic individuals, due to low specificity and sensitivity of existing risk factors and biomarkers, and the need for genetic markers that can predict predisposition to CHD and stenosis.

Innovation Solution

Identification of novel single nucleotide polymorphisms (SNPs) associated with CHD and MI, which can be used to design diagnostic reagents and therapeutic agents, and predict patient response to treatments such as statins, enabling early detection and personalized treatment strategies.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If current diagnostic methods using classic risk factors and biomarkers are used, then the diagnostic process is simple and inexpensive, but the sensitivity and specificity for early detection of CHD and MI are low

Engineering Contradiction:
Improvedetection accuracyVSAvoiddiagnostic method complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent segments the diagnostic approach by identifying and analyzing multiple specific SNP loci (rs12771486, rs1333049, rs11262644, rs10116277, rs4958942) individually and in combination. This segmentation of genetic markers allows for precise detection of CHD and MI risk through analysis of specific genomic regions, thereby improving measurement precision while maintaining a manageable diagnostic complexity through focused targeting of key loci.

Inventive Principle:
Principle #1Segmentation

2Reliability

If genetic markers are introduced to predict predisposition to CHD, then the early detection capability is improved, but the complexity of diagnostic methods increases

Engineering Contradiction:
Improverisk prediction reliabilityVSAvoiddiagnostic system complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent applies universality by developing a multi-functional diagnostic system that uses SNP genotyping to simultaneously achieve multiple objectives: predicting CHD risk, predicting MI risk, and identifying individuals who would benefit from preventive therapy. This single genetic marker panel serves multiple diagnostic and prognostic functions, improving reliability without proportionally increasing system complexity.

Inventive Principle:
Principle #6Universality (Multi-functionality)

Solution Approach 2:

The patent implements preliminary action by using SNP markers to identify individuals at increased risk of CHD and MI before clinical events occur. The genetic markers provide advance warning that allows for preventive interventions, thereby improving reliability of risk prediction by detecting predisposition early in the disease process, before traditional risk factors manifest.

Inventive Principle:
Principle #10Preliminary action

3Measurement precision

If multiple SNP loci are analyzed for disease association, then the prognostic value is enhanced, but the cost and complexity of testing increases

Engineering Contradiction:
Improverisk assessment precisionVSAvoidnumber of genetic markers
Core Design Contradiction:
Measurement precisionVSQuantity of substance

Solution Approach 1:

The patent merges multiple SNP loci (rs12771486, rs1333049, rs11262644, rs10116277, rs4958942) into a unified diagnostic approach. By combining these specific genetic markers that are distributed across different chromosomes and genes, the patent enhances prognostic value through cumulative information from multiple loci, while the merging strategy allows for efficient testing that manages the quantity of markers analyzed.

Inventive Principle:
Principle #5Merging (Combining)

Data Source

PatentUS7977052B2Genetic polymorphisms associated with coronary heart disease, methods of detection and uses thereof
Publication Date: 2011.07.12 APPLIED BIOSYSTEMS LLC
  • US7977052B2 patent drawing
  • US7977052B2 patent drawing
  • US7977052B2 patent drawing

AI summary

The present invention is based on the discovery of genetic polymorphisms that are associated with coronary heart disease and in particular stenosis and MI and response to drug treatment. In particular, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of using the nucleic acid and proteins as well as methods of using reagents for their detection.