Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

GENETIC VARIATION

An evolving hypothesis in autoimmune disease genetics

Nature Reviews Genetics (2022)Cite this article

Subjects

Genetic variations in the major histocompatibility complex (MHC) region at chromosomes 6p21 are strongly associated with the risk of autoimmune diseases such as rheumatoid arthritis (RA), a common autoimmune disease characterized by inflammation and destruction of the joints. The MHC region includes multiple human leukocyte antigen (HLA) genes, which encode molecules that regulate adaptive immune responses and self-recognition by presenting antigens. Fine-mapping disease-causal HLA variants has been challenging given their highly polymorphic features, including many alleles and amino acid polymorphisms, as well as their complex linkage disequilibrium structure.

This is a preview of subscription content

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

Buy

All prices are NET prices.

References

Original article

  • Gregersen, P. K. et al. The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis. Rheum. 30, 1205–1213 (1987)

    CAS  Article  Google Scholar 

Related article

  • Raychaudhuri, S. et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat. Genet. 44, 291–296 (2012)

    CAS  Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan

    Yukinori Okada

  2. Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan

    Yukinori Okada

Authors
  1. Yukinori Okada
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Yukinori Okada.

Ethics declarations

Competing interests

The author declares no competing interests.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Okada, Y. An evolving hypothesis in autoimmune disease genetics. Nat Rev Genet (2022). https://doi.org/10.1038/s41576-022-00482-9

Download citation

  • Published:

  • DOI: https://doi.org/10.1038/s41576-022-00482-9

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing