Purpose:
This study was conducted to investigate whether the same associationbetween the Y402H polymorphism in CFH and AMD could be expectedin Brazilian individuals, known constituted by a large mixed-racepopulation.
Methods:
Blood samples were collected from AMD patients (111) and controlscounterparts (111) from the Ophthalmology Department/SãoPaulo Federal University. After plasma separation, genomic DNAwas extracted, amplified by PCR technique and analyzed for theY402H polymorphism, located in exon 9 of CFH and PCR-directedsequencing. The samples were analized by the department of Immunology/SãoPaulo University. Criteria for inclusion were age (more than50 years) and the diagnosis of AMD without others ocular causesof neovascularization.
Results:
Mean age of AMD was 73,40 ys (50-92 ys) and Control was 71,25ys (50-93 ys), the prevalence of males were 39% (AMD) and 33%(Control). The frequency of the CC (Y402H) homozygous was 37.7%in AMD patients compared with 14.3% in controls (OR 4,29); CTheterozygous was 38% in AMD patients compared with 43.9% incontrols (OR 1,35) and 27.3 % TT (T402) homozygous (41.8% controlgroup). Patients between 60-79 ys heterozygous type were prevalent,50-59 ys and 80-89 ys CC homozygous type were prevalent andindividuals more than 90 ys CT and TT were equal with no CC.
Conclusions:
The association of the Y402H polymorphism of the CFH gene toAMD susceptibility is more present in pacients with AMD compareto the control group.
Keywords: age-related macular degeneration • genetics • retina