PON1 Gene Polymorphisms in Italian Age-Related Macular Degeneration Patients

Abstract

Abstract: : Purpose:Age-related macular degeneration (ARMD) has been related to both environmental and genetic factors, and atherosclerosis is one of the risk factors implicated in its pathogenesis. Our earlier finding of a link between paraoxonase (PON) gene polymorphisms and atherosclerosis prompted us to evaluate if particular PON genotypes occurred more frequently in ARMD subjects than in controls. Methods:A total of 110 ARMD patients and 69 age-matched controls (without ARMD or cardiovascular disease) underwent a complete ophthalmologic examination. ARMD was diagnosed according to international guidelines (1995). PON1 polymorphisms were determined in DNA samples by PCR amplification and restriction analysis. Results: The distribution of PON1 55 and PON1 192 genotypes did not differ significantly between the patients considered globally and controls. However, PON 1 (MM) 55 and PON1 192 (QQ) were more frequent than respectively PON1 55 (LM+LL) and PON1192 (QR+RR) in the subset of patients with the exudative forms of ARMD compared with age-matched controls (p<0.01). Conclusions: Our data show that some PON1 polymorphisms are significantly associated with ARMD in the Italian polulation. However, the true role of this association in the pathogenesis of ARMD has yet to be established. In fact, we cannot exclude the possibility that our patients and controls were affected by atherosclerosis, and that the atherosclerotic process rather than ARMD was responsible for the significant association between PON polymorphisms and ARMD detected in our study and in a previous report (Tsunehiko I. et al.2001).

Keywords: genetics • age-related macular degeneration • degenerations/dystrophies