Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population.
OBJECTIVE
Apolipoprotein E (apoE) is an important regulator of cholesterol and lipid transport during compensatory synaptogenesis. Our purpose was to investigate the role of apoE gene polymorphisms in Italian patients with age-related macular degeneration (AMD).


METHODS
We used the polymerase chain reaction technique to analyze apoE genotypes in 87 patients with AMD, in 47 age-matched controls and in 1,287 individuals from a general reference population.


RESULTS
The frequency of allele epsilon4 carriers was significantly higher (p = 0.002) in the general population than in AMD patients, while the frequency of allele epsilon2 was higher in the patients (p = 0.069) with an increased risk for AMD in the patients versus the population-based controls (odds ratio = 1.7; 95% confidence interval: 1.0-2.9). Allele epsilon4 was associated with a decreased risk for AMD in the patients versus the population-based controls (odds ratio = 0.3; 95% confidence interval: 0.1-0.8).


CONCLUSIONS
These data suggest that apoE testing may represent a tool for the evaluation of the relative risk of AMD. Consequently, a preventive strategy can be initiated at an early stage of the disorder.


CONCLUSIONS
The apoE gene polymorphism showed a significant association with the risk of AMD. The lower frequency of the epsilon4 allele in AMD patients suggests that the apoE gene could play a protective role in the pathogenesis of the disease. In contrast, the epsilon2 allele was found associated with a slightly increased risk of AMD, although we did not find a statistically significant effect.
Simonelli
F
F
Department of Ophthalmology, Seconda Università di Napoli, Italy. franctes@tin.it
Margaglione
M
M
Testa
F
F
Cappucci
G
G
Manitto
M P
MP
Brancato
R
R
Rinaldi
E
E
D000368:Aged; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008268:Macular Degeneration / Q000208:ethnology / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012307:Risk Factors
D001057:Apolipoproteins E