ISSN 1662-4009 (online)

Previous issue | Volume 21 | ESPEYB21

Yearbook of Paediatric Endocrinology 2024

3. Thyroid

Thyroid Autoimmunity

ey0021.3-12 | Thyroid Autoimmunity | ESPEYB21

3.12. The genetics of Graves' disease

Grixti Lydia , Lane Laura C , Pearce Simon H

Brief Summary: This article provides an in-depth review of the genetic factors contributing to Graves’ disease (GD), the most common cause of hyperthyroidism. The authors explain that GD has a strong genetic component, with genetic factors accounting for 60-80% of the risk of developing this disease. The review traces the progress of genetic studies from initial candidate gene studies to genome-wide association studies that have identified over 80 susceptibility loci. Key...

ey0021.3-13 | Thyroid Autoimmunity | ESPEYB21

3.13. Epigenome-wide association study shows differential DNA methylation of MDC1, KLF9, and CUTA in autoimmune thyroid disease

Lafontaine Nicole , Shore Christopher J , Campbell Purdey J , Mullin Benjamin H , Brown Suzanne J , Panicker Vijay , Dudbridge Frank , Brix Thomas H , Hegedus Laszlo , Wilson Scott G , Bell Jordana T , Walsh John P

Brief Summary: This epigenome-wide association study (EWAS) aimed to identify differentially methylated positions (DMPs) and regions (DMRs) between Graves’ disease (GD) and Hashimoto’s disease (HD) in two independent patient cohorts from Australia (30 patients with GD and 30 with HD, discovery cohort) and Denmark (32 patients with GD and 32 with HD, replication cohort). Linear mixed models were used to test for differences in quantile-normalized β values of DNAm...