Elucidating the pathogenesis of multifactorial diseases through comprehensive analysis of functional gene polymorphisms

Genome-wide association studies (GWAS) have been conducted in multifactorial diseases such as autoimmune diseases, and more than 1000 disease susceptibility gene regions have been identified. However, GWAS only indicates the presence of disease-causing gene polymorphisms within a region. The effects of the accumulation of these gene polymorphisms on the functions of cells and tissues involved in disease states must be clarified. In this study, we aim to integrate existing disease GWAS data and eQTL and sQTL analyses to elucidate the pathogenesis of various multifactorial diseases through a comprehensive analysis of functional gene polymorphisms.