Gene Associated With Multinodular Goiter: DUOX2 = Thyroid oxidase 2 gene

a.    The official name of the DUOX2 gene

       The official name of this gene is “dual oxidase 2.” DUOX2 is the gene's official symbol. The DUOX2 gene is also known by other names.

b.    The normal function of the DUOX2 gene

       The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. This enzyme is found in the thyroid gland (a butterfly-shaped tissue in the lower neck), salivary glands, the digestive tract, and airways in the throat and lungs. Dual oxidase 2 helps generate a chemical called hydrogen peroxide. In the thyroid,

Gene Associated With Multinodular Goiter: IYD = Iodotyrosine deiodinase gene

a. The official name of the IYD gene

   The official name of this gene is “iodotyrosine deiodinase.” IYD is the gene's official symbol. The IYD gene is also known by other names.

b. The normal function of the IYD gene

    From Entrez Gene:

    This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of  mono- and diiodotyrosine, which are

Gene Associated With Multinodular Goiter: TSHR = thyroid stimulating hormone receptor gene

a.    The official name of the TSHR gene

      The official name of this gene is “thyroid stimulating hormone receptor.” TSHR is the gene's official symbol. The TSHR gene is also known by other names.

b.    The normal function of the TSHR gene

       The TSHR gene provides instructions for making a receptor that serves as a customized binding site for a hormone called thyroid stimulating hormone (TSH). This receptor spans the membrane of certain cells (called follicular cells) in the thyroid gland,

Gene Associated With Multinodular Goiter: SLC26A4 = Pendred syndrome gene (Pendrin)

a.    The official name of the SLC26A4 gene

      The official name of this gene is “solute carrier family 26, member 4.” SLC26A4 is the gene's official symbol. The SLC26A4 gene is also known by other names.

b.    The normal function of the SLC26A4 gene

       The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, across cell membranes. Pendrin is present in the kidneys, inner ear, and thyroid. The thyroid is a butterfly-shaped tissue at the base of the neck that releases hormones to help regulate growth and the rate of chemical reactions in the body (metabolism).

       Although the function of pendrin is

Gene Associated With Multinodular Goiter: NIS (SLC5A5) = sodium-iodide symporter gene

a.    The normal function of the SLC5A5 gene

      The SLC5A5 gene provides instructions for making a protein called sodium-iodide symporter or NIS. In certain tissues, this protein facilitates the uptake of iodide (a negatively charged version of iodine). The NIS protein is found primarily in the thyroid gland, a butterfly-shaped tissue in the lower neck. The thyroid gland produces and releases iodide-containing thyroid hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). The NIS protein supports a remarkably efficient system that ensures iodine from the

Gene Associated With Multinodular Goiter: Thyroid peroxidase (TPO gene)

a.       The official name of the TPO gene

      The official name of this gene is “thyroid peroxidase.” TPO is the gene's official symbol. The TPO gene is also known by other names.

b.      The normal function of the TPO gene

       The TPO gene provides instructions for making an enzyme called thyroid peroxidase. This enzyme plays a central role in the function of the thyroid gland, a butterfly-shaped tissue in the lower neck. Thyroid peroxidase assists the chemical reaction that

Genes Associated With Multinodular Goiter

In contrast to sporadicgoiters, caused by spontaneous recessive genomic variation, most cases of familial goiter present an autosomal dominant pattern of inheritance, indicating predominant genetic defects. Gene-gene interactions or various polygenic mechanisms (i.e. synergistic effects of several variants or polymorphisms) could increase the complexity of the pathogenesis of nontoxic goiter and offer an explanation for its genetic heterogeneity. A strong genetic predisposition is indicated by family and twin studies. Thus, children of parents with goiter have a significantly higher risk of developing goiter compared with children of nongoitrous parents. The high incidence in females and the higher concordance  in monozygotic than in dizygotic twins also suggested a genetic predisposition. Moreover, there is preliminary evidence of a positive family history for thyroid diseases in those who have postoperative relapse of goiter, which can occur from months to years after surgery.

Defects in genes that play an important role in thyroid physiology and thyroid hormone synthesis could predispose to the development of goiter, especially in case of borderline or overt iodine deficiency. Such defects could lead to dyshormonogenesis as an immediate response, thereby indirectly explaining the nodular transformation of the thyroid as late consequences of dyshormonogenesis, as a form of maladaptation.

The genes that encode the proteins involved in thyroid hormone synthesis, such as the thyroglobulin-gene (TG-gene), the thyroid peroxidase-gene (TPO-gene),