Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Via Ardeatina 354, 00142, Rome, Italy; Department of Chemical Pharmaceutical and Biomolecular Technologies, Catholic University "Our Lady of Good Counsel" Laprakë, Rruga Dritan Hoxha, 1000, Tirane, Albania.
Department of Biomedicine and Prevention, ''Tor Vergata'' University, Via Montpellier 1, 00133, Rome, Italy; Emotest Laboratory, Via Patria Montenuovo Licola 60, 80078, Pozzuoli, Italy.
Prog Retin Eye Res. 2018 Mar;63:132-146. doi: 10.1016/j.preteyeres.2017.11.004. Epub 2017 Nov 29.
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.
这篇综述主要描述了导致意大利人群渗出性年龄相关性黄斑变性（AMD）发病和进展的遗传和非遗传因素。特别是，意大利人群中 AMD 的易感性归因于遗传变异，占疾病的 23%，非遗传变异占 AMD 的 10%。我们的数据突出显示了我们队列中与全球人群相比，AMD 的遗传和非遗传因素的显著差异。在遗传变量中，CFH、ARMS2、IL-8、TIMP3、SLC16A8、RAD51B、VEGFA 和 COL8A1 的 SNP 与意大利队列中 AMD 的风险显著相关。令人惊讶的是，在欧洲、美国和亚洲人群中描述的其他易感性变异在我们的队列中没有达到显著水平。正如预期的那样，年龄较大、吸烟和饮食习惯与该疾病相关。此外，我们还描述了一些基因-基因和基因-表型相互作用。事实上，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引起的损伤。我们的综述提供了一个概述，描述了意大利人群中 AMD 易感性的遗传和非遗传因素，概述了与全球人群的差异。总的来说，这些数据反映了意大利人群的历史、地理、人口和生活方式的特点。还描述了表观遗传学、药物遗传学、合并症和遗传咨询在 AMD 患者管理中的作用，从应用“针对特定人群的精准医学”方法的角度出发，旨在预防 AMD 的发病和提高患者的生活质量。
