The human leukocyte antigen and genetic susceptibility in human diseases

Abstract

Abstract. The human leukocyte antigen (HLA) complex is involved in immunity, belongs to a highly polymorphic family of genes, and is found in a disease-associated region of the human genome. The HLA region of the genome has been associated with more than hundreds of diseases, including autoimmune diseases, cancer, and infectious diseases. Because of its extensive linkage disequilibrium, HLA represents one of the most attractive and valuable regions that have been discovered in numerous feasibility studies. However, despite its critical role, attempts to apply comprehensive and traditional strategies towards the characterization of the HLA locus have been limited. The recent development of genotyping arrays and sequencing technologies has resulted in the development of technologies that are capable of addressing the extreme polymorphism nature of HLA. In this review, we summarized the current approaches being used to capture, sequence, and analyze HLA genes and loci. In addition, we discussed the new methodologies being used for these applications, including HLA genotyping, population genetics, and disease-association studies.