The MHC locus and genetic susceptibility to autoimmune and infectious diseases

• Published in: Genome Biology Vol. 18; no. 1; p. 76
• Main Authors: Matzaraki, Vasiliki, Kumar, Vinod, Wijmenga, Cisca, Zhernakova, Alexandra
• Format: Journal Article
• Language: English
• Published: England BioMed Central 27.04.2017; BMC
• Subjects: Amino acids; Ankylose Spondylitis; Antigens; Arthritis; Autoimmune diseases; Autoimmune Diseases - genetics; Classic Human Leukocyte Antigen; Communicable Diseases - genetics; Epistasis; Epistasis, Genetic; Genetic analysis; Genetic Association Studies; Genetic Predisposition to Disease; Genetic screening; Genetic Variation; Genomes; Genomics; Haplotypes; Hepatitis; Histocompatibility antigen HLA; HLA antigens; HLA Antigens - genetics; Human Leukocyte Antigen; Human Papilloma Virus; Humans; Infections; Infectious diseases; Inflammatory diseases; loci; Major Histocompatibility Complex; Pathogenesis; pathogens; Psoriasis; Review; Risk factors
• ISSN: 1474-760X; 1474-7596; 1465-6906; 1474-760X; 1465-6914
• DOI: 10.1186/s13059-017-1207-1

In the past 50 years, variants in the major histocompatibility complex (MHC) locus, also known as the human leukocyte antigen (HLA), have been reported as major risk factors for complex diseases. Recent advances, including large genetic screens, imputation, and analyses of non-additive and epistatic effects, have contributed to a better understanding of the shared and specific roles of MHC variants in different diseases. We review these advances and discuss the relationships between MHC variants involved in autoimmune and infectious diseases. Further work in this area will help to distinguish between alternative hypotheses for the role of pathogens in autoimmune disease development.