ESPEYB21 3. Thyroid Thyroid Autoimmunity (2 abstracts)
Rev Endocr Metab Disord. 2024 Feb;25(1):203-214. doi: 10.1007/s11154-023-09848-8. PMID: 38108994
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 genetic variants, such as those in HLA, CTLA4, and PTPN22, have been found to play significant roles in GD susceptibility. The authors also discuss emerging genotype-phenotype correlations, including how genetic variants might influence clinical outcomes such as disease severity, age of onset, and relapse rates. These findings could eventually contribute to personalized approaches in GD treatment.
While GD is largely influenced by genetic factors, the identification of numerous susceptibility loci indicates a complex, polygenic inheritance pattern. Further large-scale studies are required to validate these findings and explore their clinical implications in precision medicine for GD.