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8.4.7 Thyroid-Stimulating Hormone Receptor (TSHR) Gene
Also known as thyrotropin recept or gene. It is located at 14q31.1, which is the long
(q) arm of chromosome 14 and spanning the base pairs 80,954,989 to 81,146,306 on
chromosome 14. TSHR gene provides instructions for making a protein, known as a
thyrotropin receptor that attaches (binds) to a hormone called thyroid-stimulating
hormone (TSH) or thyrotropin (Mussett and Perry 1955).
8.4.7.1 Structural–Functional Features of the Thyrotropin Receptor
The thyroid-stimulating hormone receptor (TSHR) or thyrotropin receptor is a
member of the class A G-protein-coupled recept ors (GPCRs) (Libert et al. 1989;
Fredriksson et al. 2003). Evolutionary close relatives are the two receptors for the
gonadotrophic hormones: follitropin (FSH) (Simoni et al. 1997) and lutropin (LH)/
choriogonadotropin (CG) (Troppmann et al. 2013). The follicle-stimu lating hor-
mone receptor (FSHR) and the LHCGR together with the TSHR constitute the
sub-family of glycoprotein hormone receptors (GPHRs) (Vassart et al. 2004). The
TSHR is essential for thyroid growth and function (Postiglione et al. 2002) and
activates different G-p rotein subtypes (Allgeier et al. 1994 ) and signaling pathways
(Buch et al. 2008), whereby Gs- and Gq-induced signaling are probably of highest
importance (Kero et al. 2007). TSH and its receptor are required for thyroid hormone
synthesis and release in the thyroid gland (Kohn et al. 1989). Dysfunctions of the
TSHR are the underlying cause of various gain- or loss-of-function phenotypes
associated with thyroid malfunction.
This receptor spans the membrane of certain cells (called follicular cells) in the
thyroid gland, a butterfly-shaped tissue in the lower neck. A large part of the receptor
sits on the outer surface of the cell (extracellular), and a small portion is retained
inside the cell (intracellular). Thyroid-stimulating hormone binds to the extracellular
portion of the receptor like a key fitting into a lock, activating a series of reactions
that control development of the thyroid gland and its functions (Kohn et al. 1989).
Moreover, the communication inside the protein is regulated by several specific
amino acids or groups of amino acids at diverse structural parts that are responsible,
for instance, for intermolecular contacts (e.g., for ligand binding) or intramolecular
interactions (e.g., for maintenance of a specific conformation). In consequence, each
part of the receptor has individual functional priorities that are interrelated with
highly adapted structural features. The entire process of signal transduction is a
sequence of concerted events that are disturbed under pathogenic conditions and
must be circumvented by pharmacological interventions (Latif et al. 2016; Neumann
et al. 2011).
8.4.7.2 Thyrotropin Receptor Polymorphisms
Over the past few years, mutations in the TSHR gene have been identified as a cause
of acquired, hereditary, or congenital thyroid diseases, as recently reviewed by
Duprez et al. (1998). The identification of a large series of gain-of-function
mutations in the TSHR gene was one of the first examples of a new pathophysiologi-
cal mechanism, in which diseases are caused by mutations that increase the basal
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activity of a receptor and make it constitutively active, in the absence of its normal
agonist. Mutations must be distinguished from polymorphisms in which the amino
acid substitution may have little effect on the function of the protein and do not
necessarily cause disease.
Three germ line polymorphisms of TSHR have been described in the population
(Duprez et al. 1998). Two of them were described in the extracellular portion of the
TSHR: one is a substitution of an aspartic acid to histidine in position 36 (Asp36His),
and the other is a proline substituted for a threonine in position 52 (Pro52Thr). The
third polymorphism described is a substitution of glutamic acid for aspartic acid
(Glu727Asp; C2281G) within the intracellular portion of the receptor. Muhlberg
et al. (Muhlberg 2) studied the freque ncy of Glu727Asp in a large series of patients
with non-autoimmune hyper-functioning thyroid disorders in a European Caucasian
population and failed to reveal a statistically significant difference between the
patients’ groups and the control group (Muhlberg et al. 2000).
A similar observation was made by Nogueira et al. who detected Glu727Asp
TSHR variant in one allele in 27% of normal healthy controls and studied the
functional properties of this TSHR variant after transient expression in TSA-201
cells wherein they did not find any significant difference in basal and TSH stimulated
cAMP-dependent luciferase activity between Glu727Asp and the wild-type TSHR
(Nogueira et al. 1999). According to these data, it would seem that the Glu727Asp
variant is unlikely to play a role in the genesis or evolution of toxic non-autoimmune
thyroid disease (Nogueira et al. 1999). In contrast, Gabriel et al. described a high
frequency variant allele of Glu727Asp SNP in toxic multinodular goiter and showed
that after transient expression in vitro in COS-7 cells, the mutant TSHR revealed a
significantly greater cAMP response to TSH stimulation than wild-type receptor
(Gabriel et al. 1999).
8.4.7.3 TSHR Polymorphism in TC
Earlier studies did not find any evidence of increased risk of TC with TSHR
Pro52Thr and Glu727Asp SNPs (Athena et al. 2004). In case of Pro52Thr SNP
examination of two individuals homozygous for the variant allele revealed no
abnormality in thyroid function (Cuddihy et al. 1995).
Association TSHR Asn187Asn (rs2288496) with TC risk was indicated in
previous studies which displayed a borderline significant odds ratio for heterozygous
carriers (P ¼ 0.11). Xuan et al. studied the common polymorphisms of TSHR in
thyroid tumors, showing that cases of PTC carrying the Asn187Asn (rs2288496)
variant alleles are prone to develop lymph node metastasis (Xuan et al. 2019).
Moreover, higher TSH levels and lower T4, fT4, and Anti-TG levels were linked
to variant alleles of Asn187Asn, which may partly explain the connection with an
increased risk of lymph node metastasis in such populations. The mechanisms
accounting for the requirement of TSHR Asn187Asn variants for PTC metastasis
are unknown. Asn187Asn (rs2288496) SNP is located in the 3’ UTR, which is the
potential binding site for certain microRNAs (miRNAs).
The allelic transition from T to C at this site might alter the binding affinity of
hsa-miR-628-5p. MiRNAs generally function as negative gene regulators of targeted
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genes (Bartel 2004). Therefore, one possibility is that Asn187Asn variant interacts
with miRNAs and contributes to regulating the expression of TSHR, which may play
a role in TC. TSH is a speci fic ligand of TSHR in the thyroid gland. The repression of
THSR expression would increase the secretion of TSH, which might further induce a
negative-feedback mechanism on T4 production. These hormones synergistically
engage in crosstalk in TSHR signaling. An increase in TSH/TSHR signaling triggers
an increase in the levels of downstream enzymes, such as manganese superoxide
dismutase and dual-specific phosphatase 6, which eventually results in the produc-
tion of oncogenic proteins, such as c-Myc (Moulana et al. 2018).
A simultaneous increase in serum TSH in response to hypothyroidism (common
in autoimmune diseases such as Hashimoto’s thyroiditis) would cause senescent
tumor cells to overcome oncogene-induced senescence and proceed towards malig-
nancy, thus demonstrating the importance of TSH/TSHR signaling in the develop-
ment of PTC (Boelaert et al. 2006; Haymart et al. 2008). These findings may help to
explain the increased risk of TC developing lymph node metastasis conferred by the
TSHR Asn187Asn variant allele.
8.5 Conclusions
Thyroid tumors represent an appropriate model for the study of epithelial neoplastic
transformation. TCs accumulate a number of alterations at the genomic level and it
has been proposed that genomic instability has a crucial role in the progression of
thyroid neoplasms. With sophisticated genetic tools generating a wealth of informa-
tion, we have gained better insight into the mechanisms driving thyroid tumor
progression. Recognition of these features is crucial to the management of patients
with TC. Novel treatments are being designed based on our enhanced understanding
of this disease process. Polymorphisms of candidate genes may play a role in
evaluating the risk of TC. There is a potential for future research based on the effects
of common polymorphisms on the phenotypic outcomes of TC. Further functional
experiments and independent large-scale studies need to be done to confirm the
relationship among multiple polymorphisms of can didate genes, environment
factors, and TC risk.
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