Microglia-associated expression quantitative trait loci (eQTLs) and causal variants relevant to Age-related Macular Degeneration (AMD)

The objectives of our genomics study is to analyze the eQTLs from microglia (resident immune cells) and identification of causal variants in neuro-degenerative disease. For our study, we will perform the robust eQTL analysis by integrating all available microglia genotyping and gene expression datasets of human. For this purpose we will include the normal phenotype microglia genotype and gene expression datasets. We will investigate the identified microglia eQTL for their association in neuro-degenerative disease, i.e. age-related macular degeneration (AMD).
We will run the eQTL detection software on genotype and gene expression data of normal healthy phenotype. After selecting the conditionally significant association eQTLs, we will test the pleiotropic association between the expression level of a gene and a complex trait of interest using summary-level data from AMD GWAS and analyzed eQTLs. We will also perform the genetic colocalisation analysis of potentially related phenotypes for sharing the common genetic causal variant(s) in a given region.

Dysregulated immune function and neuroinflammation have become recognized as common underlying mechanisms in aging and various neurodegenerative diseases, including AMD. Microglia serve as the resident immune cells in both the brain and retina, akin to macrophages, and have recently been identified as significant contributors to AMD pathogenesis. Our objective is to access brain microglia data to investigate microglia-associated expression quantitative trait loci (eQTLs) and causal variants relevant to AMD. We plan to utilize existing genotype and gene expression data from microglia to perform eQTL analysis.