TPH1 Gene Polymorphism Analysis for IBS Treatment Prediction

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Solution Overview

Problem

Current methods lack effective biomarkers for predicting treatment response in irritable bowel syndrome (IBS) and Crohn's disease, particularly for determining the appropriate serotonin antagonist medication based on genetic polymorphisms.

Innovation Solution

A method involving nucleic acid detection assays to analyze specific polymorphisms in the tryptophan hydroxylase 1 (TPH1) gene, such as the -347 C/A polymorphism, to determine the suitability of serotonin antagonist medications like LX1031 for patients with IBS-D and Crohn's disease.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If nucleic acid detection assays are used to analyze TPH1 gene polymorphisms, then treatment prediction accuracy is improved, but device complexity and cost increase

Engineering Contradiction:
Improvetreatment prediction accuracyVSAvoidassay complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent extracts and analyzes specific polymorphic sites (such as -347 C/A) from the TPH1 gene promoter region using targeted nucleic acid detection assays. By focusing only on the critical genetic variants associated with treatment response rather than sequencing the entire gene, the method achieves high prediction accuracy while reducing assay complexity and cost.

Inventive Principle:
Principle #2Taking out (Extraction)

2Reliability

If genetic analysis is performed to identify suitable patients for serotonin antagonist therapy, then treatment effectiveness is improved, but time and resource consumption increase

Engineering Contradiction:
Improvetreatment effectivenessVSAvoiddiagnosis time
Core Design Contradiction:
ReliabilityVSLoss of time

Solution Approach 1:

The patent performs preliminary genetic analysis using PCR-based detection of specific TPH1 polymorphisms before initiating serotonin antagonist therapy. By pre-identifying patients with favorable genetic profiles (such as those with specific -347 C/A genotypes) who are more likely to respond to treatment, the method ensures treatment effectiveness while minimizing the time required for genetic testing compared to broader genomic approaches.

Inventive Principle:
Principle #10Preliminary action

Data Source

PatentEP2834370B1Biomarker associated with irritable bowel syndrome and crohn's disease
Publication Date: 2019.01.02 THE RGT UNIV OF MICHIGAN
  • EP2834370B1 patent drawingFigure 1A~1B
  • EP2834370B1 patent drawingFigure 1C~1E
  • EP2834370B1 patent drawingFigure 2

AI summary

The present invention provides compositions and methods for characterizing irritable bowel syndrome. In particular, the present invention provides compositions and methods for determining polymorphisms associated with IBS-D and Crohn's disease. The present invention further provides compositions and methods for determining a treatment course of action in subjects with IBS-D and Crohn's disease.