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Immunogenetic Factors in Autoimmunity

  • Joanne Heward
  • Stephen Gough
Part of the Contemporary Endocrinology book series (COE)

Summary

Many genetic loci are likely to contribute to the genetic susceptibility to autoimmune diseases. To date, however, only three genes/gene regions have been consistently associated with multiple autoimmune diseases, namely the human leukocyte antigen (HLA) class II region on chromosome 6p21, the cytotoxic T-lymphocyte-associated antigen (CTLA)-4 gene on chromosome 2q33, and the PTPN22 gene encoding lymphoid tyrosine phosphatase (LYP) on chromosome 1p13. Further genes have been identified that contribute specifically to a particular disease, and many putative genes are awaiting replication in further data sets. Identification of susceptibility loci is confounded by the involvement of environmental factors in many of these conditions and by their complex polygenic nature requiring large data sets to detect genes of small effect. To identify genes that may increase susceptibility to these diseases, it is necessary to understand the role that the immune response plays in such disorders. This chapter aims to provide an overview of this role and how breakdown of complex immune mechanisms may lead to disease presentation. The role of the three common autoimmunity genes above is also discussed along with new developments in the field.

Keywords

Autoimmune disease HLA CTLA-4 PTPN22 LYP single-nucleotide polymorphism 

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Copyright information

© Humana Press Inc. 2007

Authors and Affiliations

  • Joanne Heward
  • Stephen Gough

There are no affiliations available

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