Complement factor H Y402H polymorphism and characteristics of exudative age-related macular degeneration lesions.
OBJECTIVE
The Y402H polymorphism of the complement factor H (CFH) gene is associated with age-related macular degeneration (AMD) in many populations. The reported genotype-phenotype correlations in the CFH Y402H polymorphism have not been pronounced and no studies on the effect of the polymorphism on the subgroups within wet AMD have been performed. In this study, we wanted to evaluate whether the CFH Y402H polymorphism has an effect on clinical variables in recent exudative AMD lesions.


METHODS
The study included 172 patients with exudative AMD. The size of AMD lesions and the presence and area of other AMD lesion variables were recorded in fluorescein angiography (FA) and analysed in relation to the Y402H genotypes.


RESULTS
The median lesion size (classic + occult choroidal neovascularization [CNV] + serous pigment epithelium detachment [PED] + haemorrhage, if present) was 8.15 mm(2) in patients homozygous for the CFH risk allele (CC), 7.50 mm(2) in heterozygous patients (CT), and 7.05 mm(2) in those with the normal genotype (TT) (p = 0.599). Areas of classic and occult CNV, combined, without serous PED or haemorrhage were 6.37 mm(2), 5.00 mm(2) and 5.18 mm(2), respectively (p = 0.407). There was a trend for CC patients to have more frequently minimally classic and less frequently predominantly classic lesion composition than CT or TT subjects.


CONCLUSIONS
We detected no clear impact of the CFH Y402H polymorphism on recent exudative AMD lesion characteristics. Although the complement cascade is implicated in CNV formation and scarring processes in the retina, the Y402H polymorphism appears relatively neutral in these functions.
Seitsonen
Sanna
S
Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland. sanna.seitsonen@hus.fi
Järvelä
Irma
I
Meri
Seppo
S
Tommila
Petri
P
Ranta
Päivi
P
Immonen
Ilkka
I
D000368:Aged; D000369:Aged, 80 and over; D000375:Aging; D020256:Choroidal Neovascularization / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D017242:Complement Factor H / Q000235:genetics; D005122:Exudates and Transudates; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008268:Macular Degeneration / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011110:Polymorphism, Genetic; D015995:Prevalence; D012160:Retina / Q000473:pathology
C493495:CFH protein, human; D017242:Complement Factor H