SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01115231

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Complement Factor H Haplotypes and Smoking in Age-related Macular Degeneration

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.

NCT01115231 Macular Degeneration
MeSH: Macular Degeneration


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

Time Perspective: Prospective

Cohort


There are 3 SNPs

SNPs


1 I62V

genotyping for signal nucleotide polymorphisms for I62V and Y402H in CFH gene. --- I62V ---


2 V62I

F) Predicted results and interpretation Published results, as well as data from the investigators' collaborator, Dr. Edwards, have provided ample evidence that AMD is correlated with increased serum levels of Ba, C3d and fD; whereas elevated levels of Ba and C3d were documented in V62I subjects. --- V62I ---

The investigators expect to confirm and extend the findings in V62I subjects, and to identify a positive correlation between elevated levels of complement activation proteins and Y402H. --- V62I ---


3 Y402H

genotyping for signal nucleotide polymorphisms for I62V and Y402H in CFH gene. --- I62V --- --- Y402H ---

The investigators expect to confirm and extend the findings in V62I subjects, and to identify a positive correlation between elevated levels of complement activation proteins and Y402H. --- V62I --- --- Y402H ---



HPO Nodes