The review essentially describes genetic and non-genetic variables contributing to the onset and progression of exudative Age-related Macular Degeneration (AMD) in Italian population. In particular, AMD susceptibility within Italian population is contributed to by genetic variants, accounting for 23% of disease and non-genetic variants, accounting for 10% of AMD. Our data highlighted prominent differences concerning genetic and non-genetic contributors to AMD in our cohort with respect to worldwide populations. Among genetic variables, SNPs of CFH, ARMS2, IL-8, TIMP3, SLC16A8, RAD51B, VEGFA and COL8A1 were significantly associated with the risk of AMD in the Italian cohort. Surprisingly, other susceptibility variants described in European, American and Asiatic populations, did not reach the significance threshold in our cohort. As expected, advanced age, smoking and dietary habits were associated with the disease. In addition, we also describe a number of gene-gene and gene-phenotype interactions. In fact, AMD-associated genes may be involved in the alteration of Bruch's membrane and induction of angiogenesis, contributing to exacerbate the damage caused by aging and environmental factors.

Our review provides an overview of genetic and non-genetic factors characterizing AMD susceptibility in Italian population, outlining the differences with respect to the worldwide populations. Altogether, these data reflect historical, geographic, demographic and lifestyle peculiarities of Italian population. The role of epigenetics, pharmacogenetics, comorbities and genetic counseling in the management of AMD patients have been described, in the perspective of the application of a “population-specific precision medicine” approach addressed to prevent AMD onset and improve patients’ quality of life.

该综述主要描述了遗传和非遗传变量，这些变量助长了意大利人口与年龄相关的渗出性黄斑变性的发生和发展。尤其是，意大利人群中AMD的易感性是由遗传变异引起的，占疾病的23％，非遗传变异占AMD的10％。我们的数据突显了在我们的队列中，与全球人群有关，AMD的遗传和非遗传因素有显着差异。在遗传变量中，CFH，ARMS2，IL-8，TIMP3，SLC16A8，RAD51B，VEGFA和COL8A1的SNP与意大利人群的AMD风险显着相关。令人惊讶的是，在欧洲，美洲和亚洲人口中描述的其他易感性变异在我们的队列中未达到显着性阈值。正如预期的那样，高龄，吸烟和饮食习惯与该疾病有关。此外，我们还描述了许多基因-基因和基因-表型的相互作用。实际上，与AMD相关的基因可能参与了Bruch膜的改变和血管生成的诱导，从而加剧了衰老和环境因素造成的损害。

我们的综述概述了意大利人群中AMD易感性的遗传和非遗传因素，概述了全球人群之间的差异。这些数据总共反映了意大利人口的历史，地理，人口和生活方式特征。从“特定人群的精准医学”方法的应用来预防AMD发作和改善患者生活质量的角度出发，已经描述了表观遗传学，药物遗传学，药物代谢和遗传咨询在AMD患者管理中的作用。