Functional genetics for studying the human immune system. (27th July 2021)

• Record Type: Journal Article
• Authors: Yamamoto, Kazuhiko; Suzuki, Akari; Guerrini, Matteo Maurizio
• Is Part Of: International immunology. Volume 33:Number 12(2021)
• Page Start: 647
• Page End: 651
• Publication Date: 2021-07-27
• Subjects: autoimmune diseases -- genetic factors -- genome function -- genome-wide association analysis -- human immunology; Immunology -- Periodicals; 616.079
• DOI: 10.1093/intimm/dxab046
• Languages: English
• ISSNs: 0953-8178

Abstract

Abstract: Although small numbers of immune-mediated diseases are inherited due to rare genetic mutations, most are multifactorial diseases caused by multiple elements including genetic and environmental factors. In the case of autoimmune diseases, many disease-susceptibility genes, including several in the major histocompatibility gene complex, have been reported, and over the past 10 years, genome-wide association studies (GWAS) have been used to analyze disease-susceptibility loci in representative diseases. Furthermore, many disease-susceptibility variants have been found to be related to gene expression levels. The expression of genes involved in disease pathogenesis is often cell-type-specific, and this is closely related to epigenome alterations. Genomic information is present even before the onset of a disease and has a clear causal relationship to the disease (i.e. the outcome). Therefore, it is important to establish functional genetics in human immunology to understand the pathogenesis of diseases using these pieces of information. We can then apply these results to drug discovery. Here, we will review these issues, especially focusing on autoimmune diseases, and discuss current and future directions of human immune system research.