THBS1 Gene SNPs for Dry Eye Risk Stratification
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Solution Overview
Problem
Current treatments for dry eye, particularly after refractive eye surgery, are largely palliative and have limited success, and there is a need for a genetic biomarker to stratify patients at risk and improve pharmacodynamics and safety testing.
Innovation Solution
Identification of single nucleotide polymorphisms (SNPs) in the Thrombospondin 1 (THBS1) gene associated with an increased risk of dry eye, allowing for diagnostic and therapeutic interventions, including the use of specific SNPs to determine the need for treatment and administer appropriate therapeutics.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If current palliative treatments are used for dry eye, then treatment can be administered, but treatment success is limited
Solution Approach 1:
The patent applies preliminary action by identifying SNPs in the THBS1 gene before dry eye disease develops or progresses. Genetic testing detects specific polymorphisms (rs1478604, rs2228262, rs2292305) that indicate susceptibility to dry eye, allowing clinicians to implement preventive strategies or early interventions before the condition becomes chronic and resistant to treatment.
2Measurement precision
If genetic biomarkers are implemented to stratify patients, then diagnostic precision is improved, but device complexity increases
Solution Approach 1:
The patent applies segmentation by focusing on specific, discrete SNP locations within the THBS1 gene rather than analyzing the entire genome. Three specific polymorphic sites (rs1478604 at position 42, rs2228262 at position 7079, and rs2292305 at position 7543) are identified and tested individually, breaking down the complex genetic analysis into manageable, targeted assessments that can be performed with specialized assays.
Data Source
AI summary
Embodiments of the invention relate to single nucleotide polymorphisms (SNPs) in Thrombospondin 1 gene (THB-S1) that are herein linked to an increased risk for dry eye (also known as keratoconjunctivitis). The polymorphisms disclosed herein are directly useful for the diagnosis of an increased risk for dry eye, as well as for the determination of patient treatment pre- and post-surgery (e.g. pre and post refractive eye surgery) or in a patient having a condition associate with dry eye (e.g. diabetes, lupus, scleroderma, Sjogren's syndrome, thyroid disorders, vitamin A deficiency, and rheumatoid arthritis). Computer systems and medium are also enclosed. The SNPs can be present in unique combinations, or as specific haplotypes indicative of dry eye. The SNPs linked to an increased risk for dry eye include rs1478604, rs2228261, and rs2292305.