Autoimmune thyroid (Hashimoto, Graves)

HLA-DR3 (DRB1*03:01)

The two common autoimmune thyroid diseases, Hashimoto thyroiditis and Graves disease, have a hereditary component in the HLA region. Most consistent is the link of HLA-DR3 (DRB1*03:01) with Graves disease; for Hashimoto the associations are weaker and more variable.

A shared predisposition

Hashimoto leads to underfunction, Graves to overfunction, yet both rest on a misdirected immune response against the thyroid. The HLA class II types influence which thyroid peptides are presented. Beyond the HLA region, further genes such as CTLA4 and PTPN22 contribute.

Context

The HLA associations are moderate and not suitable for prediction. Thyroid values and autoantibodies are decisive. Genome provides the HLA context, not a diagnosis.

What Genome measures. Presence of HLA-DR3 (DRB1*03:01) and other DR types in the HLA typing, as risk context for autoimmune thyroid disease.

Related topics

HLA and autoimmunityType 1 diabetesLupus (SLE)

Sources

  1. 1Jacobson & Tomer, 2007 The genetic basis of thyroid autoimmunity. Journal of Autoimmunity 28:85–98. doi.org/10.1016/j.jaut.2007.07.012
  2. 2Tomer, 2014 Mechanisms of autoimmune thyroid diseases: from genetics to epigenetics. Annual Review of Pathology 9:147–156. doi.org/10.1146/annurev-pathol-012513-104713