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Francesco Testa, Andrea Sodi, Giulia Frisso, Settimio Rossi, Maria Pia Manitto, Ilaria Passerini, Maurizio Ferrari, Ugo Menchini, Lucia Sacchetti, Francesca Simonelli; Molecular Genetic Variants Associated with AMD in Italian Patients. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5246.
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The genetic influence on Age-related Macular Degeneration (AMD) is supported by family and twins studies and variations in specific genes has been associated with a higher risk of developing the disease. We report on the results of a multicenter study about the molecular basis of AMD in Italian patients.
One hundred-ninety-nine AMD patients originating from different part of Italy were included in the study. The recruitment was performed through four different clinical centres (Catania, Naples, Florence, Milan). All the patients underwent a standard ophthalmic examination, including color retinography, OCT scan and autofluorescence imaging. Fluorescein angiography was performed in the cases where neovascular AMD was suspected. After informed consent, blood samples were taken from each patient. The samples were first stored in bank of biological samples of CEINGE in Naples and then distributed to three different laboratories (Naples, Florence, Milan) for molecular analysis. Some polymorphisms were investigated in the following genes: complement factor H (CFH) gene, complement factor B (BF) gene, complement component C2 gene, LOC387715 gene and ApoE gene; all the patients were also screened for two mutations of the ABCA4 gene (G1961E, D2177N). In 94 patients ABCA4 gene was completely sequenced.
The AMD higher risk-associated variant was detected in 26.3% of the patients for the CFH gene, in 17 % of the population for the LOC387715 gene and 4.2% for the ApoE gene. The protective variants in the BF and C2 genes were found respectively in 5.5% and 6.2% of AMD patients. The ABCA4 G1961E mutation was found in 2.1 % and the ABCA4 D2177N mutation in 0.6% of the population. Complete ABCA4 gene sequencing detected twelve sequence variants, always in heterozygosis.
Molecular genetic background may influence individual susceptibility to AMD in Italian patients. The identification of gene sequence variants involved in AMD pathogenesis may suggest therapeutic approaches tailored on specific individuals or populations.
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