Systematic and Comprehensive Survey of Genomic Loci Associated with Complex Diseases and Traits

Over the past decade, Genome-wide association studies (GWAS) have been successfully developed and applied to identify many sequence variants that are significantly associated with common diseases and traits. Hundreds of thousands of such trait-associated variants have already been cataloged, making GWASs great resources for complex disease research. The main challenge ahead lies in elucidating disease mechanisms from these findings. In this study, we conducted a systematic survey of the relationships between genes which have been linked to complex diseases and previously researched genetic associations to explore whether any enrichment of known biological knowledge exists. To achieve this, we queried these genes against various collections of previously researched genomic associations through Enrichr. We uncovered many intriguing enrichment patterns between disease-associated genes and biomedical conditions such as the association between Obesity & Hot Drink Temperature, Alzheimer’s and Nose Size, and Body Mass Index & the PCDHA10 Pathway. These findings could potentially shed light on the pathogenicity of these complex diseases and may help in the future development of novel therapeutic treatments.