Does Complement Factor H Gene Polymorphism Play a Role in the Regulation of Vascular Tone in the Choroid?
Summary
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.
Study Design
Endpoint Classification: Safety/Efficacy Study, Intervention Model: Parallel Assignment, Masking: Double Blind (Subject, Investigator), Primary Purpose: Basic Science
Conditions
Genetic Polymorphism
Intervention
Squatting
Location
Department of Clinical Pharmacology, Medical University of Vienna
Vienna
Austria
Status
Not yet recruiting
Source
Medical University of Vienna
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00708929
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Polymorphism, Genetic
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Recombination, Genetic
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Genetics, Population
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
Templates, Genetic
Macromolecular molds for the synthesis of complementary macromolecules, as in DNA REPLICATION; GENETIC TRANSCRIPTION of DNA to RNA, and GENETIC TRANSLATION of RNA into POLYPEPTIDES.
Gene Expression
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
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