SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00708929

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Does Complement Factor H Gene Polymorphism Play a Role in the Regulation of Vascular Tone in the Choroid?

Age related macular degeneration (AMD) is a multifactorial disease with a strong genetic component. Most importantly a genetic polymorphism in the gene encoding for the complement factor H (CFH) has been recently identified which is highly associated with an increased risk of developing AMD. This Tyr402His polymorphism located on chromosome 1q31 has been implicated to play a role in the development of the disease. Given that it is known that impaired regulation of choroidal vascular tone is present in patients with AMD, the current study seeks to investigate whether the Tyr402His polymorphism is associated with altered choroidal autoregulation in healthy subjects. For this purpose a total of 100 healthy volunteers will be included in order to test the hypothesis that an impaired regulation of choroidal blood flow is present in subjects with homozygous Tyr402His variant.

NCT00708929 Genetic Polymorphism Macular Degeneration Regional Blood Flow Ocular Physiology
MeSH: Macular Degeneration

1 Interventions

Name: Squatting

Description: Squatting for 6 minutes

Type: Procedure

1 2


Primary Outcomes

Measure: Choroidal blood flow during isometric exercise

Time: 10 minutes

Measure: Tyr402His genotyping

Time: screening

Secondary Outcomes

Measure: Mean arterial pressure

Time: 20 minutes

Measure: Intraocular pressure

Time: before and after blood flow measurements

Measure: Systolic/diastolic blood pressure

Time: 20 minutes

Measure: Pulse rate

Time: 20 minutes

Purpose: Basic Science

Allocation: Non-Randomized

Parallel Assignment


There is one SNP

SNPs


1 Y402H

This Tyr402His polymorphism located on chromosome 1q31 has been implicated to play a role in the development of the disease. --- Tyr402His ---

Given that it is known that impaired regulation of choroidal vascular tone is present in patients with AMD, the current study seeks to investigate whether the Tyr402His polymorphism is associated with altered choroidal autoregulation in healthy subjects. --- Tyr402His ---

For this purpose a total of 100 healthy volunteers will be included in order to test the hypothesis that an impaired regulation of choroidal blood flow is present in subjects with homozygous Tyr402His variant. --- Tyr402His ---

Tyr402His genotyping. --- Tyr402His ---



HPO Nodes