Integrative analysis and knowledgebase construction of key candidate genes and pathways in age-related macular...

Age-related macular degeneration is a retinal disease that severely impacts vision in the older population. Its gene-related heterogeneity has not been fully studied, increasing the burden of precise treatment, prevention and prognosis. Genetic variation and related information were collected, annotated and expanded from multiple related websites, and all the data were integrated into the online platform AMDGKB. Users can visit this database via the following link: http://amdgd.bioinf.org.cn/for their personalized applications knowledge-guided modeling and applications. This study also explored the heterogeneity of ethnicity and AMD subtypes via genetic variation, functional enrichment analysis and protein‒protein interactions. These results suggest that VEGFA, MT2A, CCL2 and SERPINF1 play different roles in the development of AMD in different ethnic groups. The enrichment analysis also revealed differences in the pathogenesis pathways of different ethnic groups and AMD subtypes. This study highlights that genetic heterogeneity needs to be considered in the process of diagnosis and treatment. AMDGKB provides information for investigating the transformation of genetic variation during AMD progression, as well as for future personalized applications in the diagnosis and prognosis of AMD.