Complement factor H variant increases the risk of age-related macular degeneration.
Science
; 308(5720): 419-21, 2005 Apr 15.
Article
in En
| MEDLINE
| ID: mdl-15761120
ABSTRACT
Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Variation
/
Complement Factor H
/
Polymorphism, Single Nucleotide
/
Macular Degeneration
Type of study:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Aged
/
Humans
Language:
En
Journal:
Science
Year:
2005
Document type:
Article
Affiliation country: