Parental Origin Analysis for Type 2 Diabetes Risk Assessment
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Solution Overview
Problem
Current methods for identifying genetic risk factors for type 2 diabetes are limited by the lack of consideration for parental origin of alleles, which can significantly impact disease susceptibility, and existing genome-wide association studies often treat paternal and maternal alleles as interchangeable, missing crucial information for personalized risk assessment and treatment.
Innovation Solution
A method for determining susceptibility to type 2 diabetes by analyzing nucleic acid sequence data to identify the parental origin of specific polymorphic markers, such as rs2334499 and others in linkage disequilibrium, to differentiate between paternal and maternal contributions, thereby providing personalized risk assessment and treatment guidance.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Productivity
If genome-wide association studies treat paternal and maternal alleles as interchangeable, then the analysis is simplified and faster, but the measurement precision of disease susceptibility is reduced
Solution Approach 1:
The patent segments the genetic analysis by separating paternal and maternal alleles into distinct categories. By determining parental origin of specific alleles at polymorphic markers, the method creates differentiated analysis pathways for paternal-derived versus maternal-derived alleles, allowing precise tracking of parent-of-origin effects while maintaining systematic analysis efficiency
Solution Approach 2:
The patent adds a new dimension to genetic analysis by incorporating parental origin information. Instead of analyzing alleles as one-dimensional genetic variants, the method introduces the parental source dimension, creating a two-dimensional analysis framework that simultaneously considers allele identity and parental origin to improve disease susceptibility prediction
2Measurement precision
If parent-of-origin effects are considered in genetic analysis, then the prediction accuracy of disease susceptibility is improved, but the device complexity and analysis difficulty increase
Solution Approach 1:
The patent applies preliminary action by determining parental origin of alleles before conducting the disease susceptibility analysis. By establishing which parent contributed each allele at relevant polymorphic markers in advance, the method prepares the data structure needed for accurate parent-of-origin effect analysis, avoiding the need for complex real-time determination during the main analysis phase
Solution Approach 2:
The patent uses polymorphic markers as intermediaries to trace parental origin. These markers serve as mediators that link the parental source to the disease susceptibility analysis, allowing indirect determination of parent-of-origin effects without requiring direct observation of imprinted genes or complex epigenetic analysis
3Adaptability or versatility
If parental origin of alleles is determined, then personalized risk assessment is enhanced, but the loss of time and additional testing requirements increase
Solution Approach 1:
The patent applies universality by using the same polymorphic marker analysis framework for multiple purposes. The determination of parental origin at these markers simultaneously enables personalized risk assessment, identification of parent-of-origin effects, and potential applications in understanding inheritance patterns, making the additional testing time yield multiple valuable outcomes
Data Source
AI summary
The invention relates to variants that predispose to risk of type 2 diabetes, basal cell carcinoma and breast cancer. It has been discovered that certain genetic variants confer risk of these diseases when inherited from one parent, but not the other. The invention provides methods of disease management, including diagnostic methods, utilizing such parental origin effects.