Back to Search
Start Over
The Complement Component 5 Gene and Age-Related Macular Degeneration
- Source :
- Ophthalmology, 117(3), 500-511. Elsevier Inc., Ophthalmology, 117, 500-511. Elsevier B.V., Ophthalmology: Journal of The American Academy of Ophthalmology, 117(3), 500-511
- Publication Year :
- 2010
-
Abstract
- Objective: To investigate the association between variants in the complement component 5 (C5) gene and age-related macular degeneration (AMD). Design: Separate and combined data from 3 large AMD case-control studies and a prospective population-based study (The Rotterdam Study). Participants: A total of 2599 AMD cases and 3458 ethnically matched controls. Methods: Fifteen single nucleotide polymorphisms (SNPs) spanning the C5 gene were initially genotyped in 375 cases and 199 controls from The Netherlands (The Amsterdam/Rotterdam-Netherlands [AMRO-NL] study population). Replication testing of selected SNPs was performed in the Rotterdam Study (NL) and study populations from Southampton, United Kingdom (UK), and New York, United States (US). Main Outcome Measures: Early and late stages of prevalent and incident AMD, graded according to (a modification of) the international grading and classification system of AMD. Results: Significant allelic or genotypic associations between 8 C5 SNPs and AMD were found in the AMRO-NL study and this risk seemed to be independent of CFH Y402H, LOC387715 A69S, age, and gender. None of these findings could be confirmed consistently in 3 replication populations. Conclusions: Although the complement pathway, including C5, plays a crucial role in AMD, and the C5 protein is present in drusen, no consistent significant associations between C5 SNPs and AMD were found in any of these studies. The implications for genetic screening of AMD are discussed. Financial Disclosure(s): The authors have no proprietary or commercial interest in any of the materials discussed in this article. Ophthalmology 2010; 117: 500-511 (C) 2010 by the American Academy of Ophthalmology.
- Subjects :
- Male
Oncology
medicine.medical_specialty
Genotype
genetic structures
Population
Single-nucleotide polymorphism
Drusen
Polymorphism, Single Nucleotide
Article
Macular Degeneration
03 medical and health sciences
Rotterdam Study
0302 clinical medicine
Internal medicine
Humans
Medicine
Prospective Studies
education
Aged
030304 developmental biology
Genetic association
0303 health sciences
education.field_of_study
business.industry
Case-control study
Complement C5
Macular degeneration
medicine.disease
eye diseases
3. Good health
Ophthalmology
Case-Control Studies
030221 ophthalmology & optometry
Population study
Optometry
Female
sense organs
business
Subjects
Details
- ISSN :
- 01616420
- Database :
- OpenAIRE
- Journal :
- Ophthalmology, 117(3), 500-511. Elsevier Inc., Ophthalmology, 117, 500-511. Elsevier B.V., Ophthalmology: Journal of The American Academy of Ophthalmology, 117(3), 500-511
- Accession number :
- edsair.doi.dedup.....8aed82b514ce5da3025fd5384fadb339