ABCG2 Genetic Testing for Gout Risk Stratification
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Solution Overview
Problem
Current medical treatments for hyperuricemia and gout are inefficient as they often prescribe urate-lowering drugs to all patients with high serum uric acid levels, regardless of individual risk, leading to unnecessary treatment and high burdens for patients who may not develop gout, while some patients with low levels still develop the disease.
Innovation Solution
A method and kit for evaluating uric acid-related disease diathesis by detecting specific gene polymorphisms in genes such as ABCG2, GLUT9, and URAT1, which affect urate regulation, allowing for personalized prevention and treatment strategies based on individual genetic profiles.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If urate-lowering drugs are prescribed to all patients with high serum uric acid levels, then the coverage of treatment is improved, but the number of unnecessary treatments and medical burdens increases
Solution Approach 1:
The patent applies preliminary action by performing genetic testing for ABCG2 polymorphisms before prescribing urate-lowering drugs. This allows identification of patients with high gout risk (those carrying risk alleles) in advance, enabling targeted treatment only for those who will benefit, thereby reducing unnecessary treatments and medical burdens while maintaining appropriate treatment coverage
Solution Approach 2:
The patent applies local quality by differentiating treatment strategies based on individual genetic characteristics. Patients are divided into high-risk groups (carrying ABCG2 risk alleles) and low-risk groups, with treatment decisions tailored to each group's genetic profile, ensuring that resources are allocated efficiently to those most likely to develop gout
2Measurement precision
If genetic testing for ABCG2 polymorphisms is performed, then the precision of risk identification is improved, but the complexity of the diagnostic process increases
Solution Approach 1:
The patent applies the taking out principle by extracting and focusing on a specific, high-impact genetic marker (ABCG2 polymorphisms) for gout risk assessment. Rather than performing comprehensive genomic analysis, the method isolates and tests for specific risk alleles in the ABCG2 gene, achieving high risk identification precision while keeping the diagnostic process relatively simple and targeted
Data Source
AI summary
To specify a molecule associated with the onset of gout so as to provide a method for evaluating a diathesis of uric acid-related diseases and a diathesis of inflammation-related diseases, an evaluation kit for carrying out the method, an inspection object, and a drug, on the basis of the molecule specified above, for contributing to the early treatment and prevention of the uric acid-related diseases and inflammation-related diseases. The molecule includes any one protein and cDNA of CNIH2-PACS1, ALDH2, MYL2-CUX2, GCKR, MAP3K11, NPT4, ABCG2, HIST1H2BF/HIST1H4E, HIST1H2BE/HIST1H4D and FAM35A, or proteins of combination thereof with GLUT9, NPT1, URAT1, or NXRN2, and is capable of selectively inducing gout. A molecule includes protein and cDNA of an ABCG2 variant and is capable of selectively and ATP-dependently decreasing urate excretion.