Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population

F. Simonelli, G. Frisso, F. Testa, R. Di Fiore, D. F. Vitale, M. P. Manitto, R. Brancato, E. Rinaldi, Lucia Sacchetti

Research output: Contribution to journalArticlepeer-review

Abstract

Aims: To evaluate the complement factor H (CFH) p.402Y>H polymorphism as a risk factor in age related macular degeneration (AMD) in an Italian population. Methods: 104 unrelated Italian AMD patients and 131 unrelated controls were screened for the CFH polymorphism p.402Y>H (c.1277 T>C), which has been associated with AMD. Retinography was obtained for patients and controls; the AMD diagnosis was confirmed by fluorescein angiograms. The c.1277 T>C polymorphism was genotyped with the TaqMan real time polymerase chain reaction single nucleotide polymorphism assay. Results: The frequency of c.1277C allele was higher in AMD patients than in controls (57.2% v 39.3%; pH (c.1277T>C) polymorphism and AMD applies to the Italian population and the CC genotype is more frequent in sporadic than in familial AMD cases.

Original languageEnglish
Pages (from-to)1142-1145
Number of pages4
JournalBritish Journal of Ophthalmology
Volume90
Issue number9
DOIs
Publication statusPublished - Sep 2006

ASJC Scopus subject areas

  • Ophthalmology

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