Hashimoto’s thyroiditis is the most common form of autoimmune thyroiditis and the most common cause of hypothyroidism in the United States [1].
Genes play an important role in this condition. If you have a sibling with Hashimoto’s, you have twice the risk of developing the disease. If one of your parents has Hashimoto’s, then you may have triple the risk of developing the disease [2].
Genes That May be Involved in Hashimoto’s
It’s important to note that just because certain genotypes are associated with a condition or irregular lab marker, it doesn’t necessarily mean that everyone with that genotype will actually develop the condition. Many different factors, including other genetic and environmental factors, can influence the risk of Hashimoto’s disease.
1) ZFAT (Cell Survival Gene)
ZFAT codes for a protein that has a specialized structure to help it recognize DNA important to cell development and immunity [3, 4, 5].
Reduced production of ZFAT has been associated with cell death in connective tissue and problems with cell development [6].
Having a T variant for Ex9b-SNP10 at intron 9 is associated with increased rates of autoimmune thyroiditis [7].
2) PTPN22
PTPN22 encodes a protein that prevents the activation of immune cells called T-cells (involved in H inhibitor of T-cell activation. The SNP rs2476601 is associated with Hashimoto’s in some populations, but not others [8, 9].
3) Tg
The Thyroglobulin (Tg) gene is involved in the synthesis of thyroid hormones T4 and T3. SNPs of the Tg gene at exon-33 may predispose people to autoimmune thyroid diseases, although the exact mechanisms are unknown. The D8S272 marker is indirectly linked to susceptibility to autoimmune thyroid diseases [10].
The 1623 A/G SNP of the Tg gene promoter (rs180195) is associated with Hashimoto’s thyroiditis. Individuals with Hashimoto’s are more likely to have the A allele [11].
4) VDR
The Vitamin D receptor gene (the “sunshine gene”) is critical for Vitamin D absorption. Mutations in the vitamin D receptor gene can cause vitamin D deficiency (<30 ng/mL) [12].
Vitamin D deficiency is positively correlated with increased thyroid antibodies, a common feature of autoimmune thyroid diseases [13].
5) HLA-B
HLA-B gene mutations may correlate with Hashimoto’s thyroiditis among Han Chinese people, according to a study of 488 participants [14].
