SNPMiner Trials: Mutation Report
Report for Mutation I62V
Developed by Shray Alag, 2019.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
Risk factors for Age-related Macular Degeneration (AMD) involves genetic variations in the
alternative pathway of complement inhibitor factor H. The complement system is part of the
innate and adaptive immune system. Smoking is the only environmental factor known to increase
the risk of Age-related Macular Degeneration (AMD). Using serum samples of Age-related
Macular Degeneration (AMD) patients and controls the investigators will test the hypothesis
that smoking increases Age-related Macular Degeneration (AMD) by increasing complement
activation; and that this is positively correlated with known disease variations in the
complement factor H (CFH) gene.
genotyping for signal nucleotide polymorphisms for I62V and Y402H in CFH gene. --- I62V ---
Primary Outcomes
Measure: Assessment of Age-related Macular Degeneration
Time: patients will be examined for AMD at a routine visit; if they present themselves with AMD or qualify as control, they will be recruited to the study. Information will be used in publication at the end of the 4-year study.
Secondary Outcomes
Measure: Visual field test
Time: Visual field test will be part of the patient's routine eye exam to determine why they complain about vision loss. Information will be used in publication at the end of the 4-year study.
Measure: OCT
Time: OCT will be part of the patient's routine eye exam to determine why they complain about vision loss. Information will be used in publication at the end of the 4-year study.
Measure: Fluorescein Angiography
Time: Day 1 of study.
Measure: assessment of smoking status
Time: Day 1 of study
Measure: Eye exam with fundus photography
Time: Day 1 of study.
Measure: genotyping for signal nucleotide polymorphisms for
I62V and Y402H in CFH gene
Time: within a month of obtaining blood sample
Measure: Complement pathway protein analysis
Time: within a month of obtaining blood sample
HPO Nodes