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Genetics of Thyroid Disorders.
Jessica María Rodríguez Cortés1, Hugo Mendieta Zerón2
1Faculty of Chemistry, Autonomous Mexico State University, Mexico.
Folia Medica
|July 14, 2019
Summary
Thyroid diseases stem from complex genetic interactions, not single genes. Numerous genetic variants influence the development of various thyroid conditions, including cancer and hypothyroidism.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Thyroid diseases are common endocrine disorders, second only to diabetes.
- Genetic factors significantly influence thyroid disease development, with variants in hormone metabolism genes playing a key role.
Purpose of the Study:
- To identify key genes implicated in thyroid pathologies through a literature review.
- To consolidate recent findings on genetic associations with thyroid diseases.
Main Methods:
- Literature search conducted on NCBI and EMBL-EBI databases.
- Utilized keywords related to thyroid diseases and genetics.
Main Results:
- Thyroid tumorigenesis involves oncogenes (RAS, BRAF, RET/PTC) and the PI3K/AKT pathway.
- Hypothyroidism is linked to genes like SLC5A5, SLC26A4, TG, TPO, DUOX2, and DUOXA2.
- Graves' disease risk factors include HLA-DR3, CTLA4, PTPN22, CD40, IL2RA, FCRL3, and IL23R. FOXE1 is associated with hypothyroidism and papillary thyroid cancer.
Conclusions:
- Thyroid diseases are polygenic, resulting from the interplay of multiple genetic variables.
- No single gene is identified as specifically causal; rather, it's a multifactorial genetic influence.
- Genetic variations like polymorphisms and mutations contribute to thyroid pathology development.
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