Assessing individual risk for AMD with genetic counseling, family history, and genetic testing

R Cascella, C Strafella, G Longo, L Manzo, M Ragazzo, C De Felici, S Gambardella, L T Marsella, G Novelli, P Borgiani, F Sangiuolo, A Cusumano, F Ricci, E Giardina

Research output: Contribution to journalArticlepeer-review


PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device. Statistical analysis was subsequently employed to calculate the real individual risk (OR) based on the genetic data (ORgn), family history (ORf), and smoking habits (ORsm).Results and conclusionThe combination of ORgn, ORf, and ORsm allowed the calculation of the Ort that represented the realistic individual risk for developing AMD. In this report, we present a computational model for the estimation of the individual risk for AMD. Moreover, we show that the average distribution of risk alleles in the general population and the knowledge of parents' genotype can be decisive to assess the real disease risk. In this contest, genetic counseling is crucial to provide the patients with an understanding of their individual risk and the availability for preventive actions.

Original languageEnglish
Pages (from-to)446-450
Number of pages5
JournalEye (London, England)
Issue number2
Publication statusE-pub ahead of print - Sep 11 2017


  • Journal Article

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