Immunogenetics in the diagnosis of clinical disorders

Dipankar Ash, Tamasi Roy

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations


The human major histocompatibility complex (MHC) spans around 4 Mbp on the short arm of chromosome 6 and contains more than 200 highly packed genes, which show a high degree of polymorphism and extensive patterns of linkage disequilibrium. The human MHC-encoded glycoproteins known as human leukocyte antigen (HLA) are cell-surface proteins that specialize in the presentation of short peptides to T lymphocytes, inflammation regulation, the complement system, and the innate and adaptive immune responses. Population studies carried out over the last several decades have identified more than 100 human diseases that are strongly associated with polymorphisms at the HLA loci including infectious diseases like Human immunodeficiency virus; hepatitis C virus; autoimmune and inflammatory disorders such as rheumatoid arthritis, type-1 diabetes; neurological disorders like multiple sclerosis, Parkinson’s disease, and malignant disorders. Variation in the risk and severity of these diseases among individuals who carry particular HLA alleles or a set of alleles is known as HLA disease association. The underlying mechanism of this phenomenon has been the subject of a hot debate. The major advances in genetics and mass screening of SNPs in the last few decades have improved our understanding of this disease association. In this chapter, we have provided a general overview of the findings of immunogenetic association studies disclosing the relationship between MHC variants involved in disease heritability and pathways underlying disease biology.

Original languageEnglish (US)
Title of host publicationImmunogenetics
Subtitle of host publicationa Molecular and Clinical Overview: Clinical Applications of Immunogenetics, Volume II
Number of pages22
ISBN (Electronic)9780323902502
ISBN (Print)9780323902519
StatePublished - Jan 1 2022
Externally publishedYes


  • HLA disease association
  • Immunogenetics
  • human leukocyte antigen (HLA)
  • linkage disequilibrium (LD)
  • major histocompatibility complex (MHC)
  • polymorphism

ASJC Scopus subject areas

  • General Medicine
  • General Immunology and Microbiology


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