In this prospective, case-control genetic study, 120 consecutive neovascular age-related macular degeneration (AMD) cases and 78 controls were enrolled. Two SNPs (rs2071559 and rs1870377) of VEGF-A receptor-2 (VEGFR-2) gene were analyzed with the technique of Real-Time PCR to investigate a genetic link between AMD and VEGFR-2 gene polymorphisms in Italian patients. The frequency of the VEGFR-2 genotype rs2071559 AA was significantly lower (18.33\%) in patients with AMD than in the control subjects (34.62\%; P = 0.0095, chi-square test; P(corr) = 0.038; OR = 0.42, 95\% CI 0.22 to 0.82). In conclusion, although with the limitations of a small sample size and the few SNPs studied, this study demonstrates a lower frequency of VEGFR-2 rs2071559 AA genotype in an AMD patient population, suggesting future studies on the role VEGFR-2 SNPs.

The rs2071559 AA VEGFR-2 genotype frequency is significantly lower in neovascular age-related macular degeneration patients.

ORLANDI, PAOLA;M. Figus;FIORAVANTI, ANNA;DI DESIDERO, TERESA;DANESI, ROMANO;NARDI, MARCO;BOCCI, GUIDO
2012

Abstract

In this prospective, case-control genetic study, 120 consecutive neovascular age-related macular degeneration (AMD) cases and 78 controls were enrolled. Two SNPs (rs2071559 and rs1870377) of VEGF-A receptor-2 (VEGFR-2) gene were analyzed with the technique of Real-Time PCR to investigate a genetic link between AMD and VEGFR-2 gene polymorphisms in Italian patients. The frequency of the VEGFR-2 genotype rs2071559 AA was significantly lower (18.33\%) in patients with AMD than in the control subjects (34.62\%; P = 0.0095, chi-square test; P(corr) = 0.038; OR = 0.42, 95\% CI 0.22 to 0.82). In conclusion, although with the limitations of a small sample size and the few SNPs studied, this study demonstrates a lower frequency of VEGFR-2 rs2071559 AA genotype in an AMD patient population, suggesting future studies on the role VEGFR-2 SNPs.
Lazzeri, S.; Orlandi, Paola; Figus, M.; Fioravanti, Anna; Cascio, E.; DI DESIDERO, Teresa; Agosta, E.; Canu, B.; Sartini, M. S.; Danesi, Romano; Nardi, Marco; Bocci, Guido
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11568/233978
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