Genome-Wide Analysis Identifies Two Susceptibility Loci for Positive Thyroid Peroxidase and Thyroglobulin Antibodies

Antonela Matana, Thibaud Boutin, Vesela Torlak, Dubravka Brdar, Ivana Gunjača, Ivana Kolčić, Vesna Boraska Perica, Ante Punda, Ozren Polašek, Maja Barbalić, Caroline Hayward, Tatijana Zemunik*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Introduction: Thyroid peroxidase (TPO) and thyroglobulin (Tg) are main components of the thyroid gland and play an essential role in thyroid hormone synthesis. The development of antibodies to thyroid peroxidase (TPOAb) and thyroglobulin (TgAb) is the major diagnostic hallmark and early indicator of autoimmune thyroid disease. TPOAb and TgAb are under strong genetic influence; however, genetic factors that determine thyroid antibody positivity are largely unknown. Materials and Methods: To identify novel loci associated with TPOAb and/or TgAb positivity, we performed a genome-wide meta-analysis in a total of 2613 individuals from Croatia. Participants with elevated plasma TPOAb and/or TgAb were defined as cases (N = 619) and those with TPOAb and TgAb within reference values were defined as controls (N = 1994). Results: We identified 2 novel loci, of which 1 is located within the YES1 gene (rs77284350, P = 1.50 × 10-8), and the other resides within the IRF8 gene (rs16939945, P = 5.04 × 10-8). Conclusions: Although the observed variants were associated with TPOAb and TgAb positivity for the first time, both YES1 and IRF8 were previously linked to susceptibility to other autoimmune diseases, and represent plausible biological candidates. This study adds to the knowledge of genetics underlying thyroid antibodies and provides a good basis for further research.

Original languageEnglish
Article numberdgz239
JournalJournal of Clinical Endocrinology and Metabolism
Issue number3
Publication statusPublished - 8 Jan 2020


  • genome-wide association study
  • meta-analysis
  • thyroglobulin antibody
  • thyroid peroxidase antibody


Dive into the research topics of 'Genome-Wide Analysis Identifies Two Susceptibility Loci for Positive Thyroid Peroxidase and Thyroglobulin Antibodies'. Together they form a unique fingerprint.

Cite this