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The Role of Toll-Like Receptor (TLR)
Polymorphisms in Urinary Bladder Cancer
9
Payam Behzadi
Abstract
Urinary bladder cancer (BCa), a high ranked and commo n cancer around the
world is a great concern for the global public health systems. Although our
knowledge has been significantly raised up relating to BCa, it is not the same
as other types of well-known cancers including breast and prostate cancers.
Despite the use of several scientific disciplines comprising genomics,
metabolomics, transcriptomics, etc., to characterize BCa from different aspects,
there is a long way to reach this favorite. Because of limited data and information
regarding BCa, the author has done his best try to study different papers regarding
BCa which have been published in English in recent 10 years. Due to this fact,
different search engines, e.g. Goog le Scholar, databases, e.g. PubMed/
MEDLINE, and websites, e.g. ScienceDirect were used to search, read, and select
the effective papers. Although there is a wide range of risk factors predisposing
people to BCa, the feature of single nucleotide polymorphism within the toll-like
receptor (TLR) genes is recognized as an important one. The feature of polymor-
phism in TLR genes has been investigated in different types of cancers including
breast and prostate cancers; however, our knowledge in association with
polymorphisms in TLR genes and their relationship with BCa is very limited.
Hence, in this chapter I focus deeply on the role of polymorphisms in TLR genes
in BCa.
P. Behzadi (*)
Department of Microbiology, College of Basic Sciences, Shahr-e-Qods Branch, Islamic Azad
University, Tehran, Iran
e-mail: p.behzadi@qodsiau.ac.ir
#
The Author(s), under exclusive license to Springer Nature Singapore Pte
Ltd. 2021
A. S. Sameer et al. (eds.), Genetic Polymorphism and Cancer Susceptibility,
https://doi.org/10.1007/978-981-33-6699-2_9
281
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Keywords
Bladder cancer · Single nucleotide polymorphism · Toll-Like receptors ·
Signaling pathways · Classifications
Abbreviations
AP-1 Adaptor protein-1
BCa Bladder cancer
cAMP Cyclic adenosine mono phosphate
CREB cAMP response element binding protein
DAMP Damage/danger-associated molecular pattern
ERK Extracellular signal-regulated kinase
IFN-β Interferon-β
IKK Iκ B kinase
IL Interleukin
IRAK IL-1R-associated kinase
IRF IFN regulatory facto r
ISUP International Society of Urological Pathology
LRR Leucine rich repeats
MAPK Mitogen-activated protein kinases (MAPKs)
MD-2 Myeloid differentiation factor 2
MIBC Muscular invasive bladder cancer
MyD88 Myeloid differentiation primary response protein 88
NF-κB Nuclear factor-κB
NMIBC Non-muscular invasive bladder cancer
PAMP Pathogen-associated molecular pattern
PUNLMP Papillary urothelial neoplasm of low malignant potential
SARM Sterile α- and armadillo motif-containing protein
SNP Single nucleotide polymorphism
TAK TGF-β activated kinase
TCAM TIR domain-containing adapter molecule
TCGA The cancer genome atlas
TGF-β Transforming growth factor-β
TIR Toll/IL-1R
TIRAP Toll-inte rleukin 1 receptor domain containing adapter protein
TLR Toll-like receptor
TNF-α Tumor necrosis-α
TNCI The National Cancer Institute
TNHGI The National Human Genome Institute
TRIF TIR domain-containing adaptor inducing IFN-β
UC Urothelial carcinoma
UPCA Uropathogenic Candida albicans
UPEC Uropathogenic Escherichia coli
282 P. Behzadi
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UPKP Uropathogenic Klebsiella pneumoniae
UPPM Uropathogenic Proteus mirabilis
VEFG Vascular endothelial growth factor
WHO World Health Organization
XAMP Xenobiotic-associated molecular pattern
9.1 Introduction
Genomics, Metabolomics, Transcriptomics, Molecular Biology and Biochemistry of
cancers represent a deep vision of pathways and mechanisms. Among different types
of cancers, urinary bladder cancer (BCa) ranks tenth worldwide and is a great
concern in global public health (World Health Organization 2020). It is estimated
that, every year about half a million people are added to the number of patients with
BCa around the world (Mouw 2017) and they are still fighting with the high rate of
morbidity and mortality of this cancer (Li et al. 2020). The preval ence of BCa in men
is four times more than women and the age range of 55 is recognized as the peak
range of diagnosed BCa. In accordance with latest released data from GLOBCAN
and WHO, the global incidence of BCa is 3% and the mortality rate of this cancer is
determined as 2.1% (Saginala et al. 2020). Moreover, the incidence of BCa among
white men population is two times more common than the black men population
(Sharifi et al. 2019).
BCa just like the other types of cancers initiates and expands by activation,
inactivation, or mutation in the key genes associated with apoptosis, cell growth,
proliferation, genome protector, etc. Today by the help of computational biology and
chemistry, pan-genomic sequencing technologies, and bioinformatic software tools
we are able to subtype heterogeneous cancers such as BCa (Al-Ahmadie and Netto
2020; Jalanko et al. 2020; Meeks et al. 2020). There are a huge number of genes
comprising Toll-like receptor (TLR) genes in which the occurrence of mutations and
polymorphisms may lead to BCa. TLRs, the molecules that bridge the innate
immune system into the adaptive immune system have important role in BCa
initiation by involving their genes in polymorphism feature. Due to this fact, the
main aim of the author of this chapter is to focus deeply on the role of TLR gene
polymorphisms in BCa.
9.2 Urinary System and Urinary Bladder Cancer
BCa, as the most frequent cancer in urinary tract is recognized within 75% of men in
global human population (Mansour et al. 2020; Zhu et al. 2020). The urinary system
in mammals involves a prolonged hollowed structure which is consisted of different
types of organs including kidneys, urinary bladde r, and urethra which are common
in both sexes of male and female. This tract as a harmonic and orchestrated system
9 The Role of Toll-Like Receptor (TLR) Polymorphisms in Urinary Bladder Cancer 283
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gathers, transfers, maintains, and spurts the waste metabolites and toxic compounds
from the inner side of the body into the outside in the form of urine. Indeed, the urine
flow starts from the upper part of urinary tract and the urine elimination achieves in
the lower part of urinary system (Hickling et al. 2017). The lower part of urinary tract
and in particular the urinary bladder is covered by the mucosal lining made of
urothelial cells or urothelia that have the ability of urine movement by affecting
the smooth muscles. So, the urinary bladder is armed by smooth muscle which
regulates the bladder relaxation and contraction via secreted modulators throughout
urothelia (Sellers et al. 2018). Urothelial cells together with lamina propria (LP) and
basement membrane (BM) constitu te mucosal tissue of the urinary bladder. The
urothelial cells are known as a part of signaling pathway which involves the LP too.
The LP as a suburo thelium structure is situated between BM and detrusor
muscularis. Now, we know that the LP has a key role in both situations of normal
and abnormal urinary bladder (Andersson and McCloskey 2014). The previous
studies indicate that 90% of the recognized cases belonging to BCa are in association
with urothelium section of the mucosal urinary bladder and the left 10% is relating to
squamous cells of urinary bladder. The reason of urothelial cell BCa occurrence is
the exposure of the cells with exterior oncogenic and mutagenic compounds which
are present within the urine while the squamous cell BCa is in association with
specific geographic regions such as Africa and relating to microbial infection of
schistosomiasis (Saginala et al. 2020).
The presence of blood in clinical samples of urine (visible/macroscopic hematu-
ria) in patients with 45 years old and non-visible/microscopic hematuria in patients
with 60 years old can be a clear sign for BCa. Seventy-five to eighty-five of
patients with BCa are hematuria positive (Paparo and Fallahi 2017; Yazbek-Hanna
and Jain 2020). Cystoscopy, ultrasonography, and computed tomography urography
(CTU) are suitable methodologies to monitor and investigate patients who are
suspected for BCa (Saginala et al. 2020; Yazbek-Hanna and Jain 2020). Cystoscopy
(biopsy sampling) and urinary cytology are the gold standard methodologies for BCa
monitoring and diagnosis (Loras et al. 2019; Paparo and Fallahi 2017; Tian et al.
2020). As a standard approach, the patients with BCa should continuously be under
control by cystoscopy, biopsy, and cytology for a long period of time. That is why,
the treatment procedure of BCa costs expensive (LOPEZ 2020). Cystoscopy as an
invasive diagnostic technique is necessary, because this technique is able to recog-
nize up to 70% of malignant BCa cases (Besaratinia et al. 2013).
9.3 Urinary Bladder Cancer Risk Factors
There is a wide range of risk factors including smoking (tobacco) (the main
predisposing factor which puts BCa in the second place after lung cancer), exposure
to chemicals (involving environmental, industrial, and occupational compounds),
age, dieta ry (drinking coffee), gender, uropathogenic microorganisms such as
uropathogenic bacteria and schistosomiasis, race, genetic factors (involving
mutations and/or single nucleotide polymorphisms (SNPs) in different important
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genes such as TLR genes or hereditary diseases like Cowden’s and Lynch
syndromes), socioeconomic status, application of some drugs comprising cyclo-
phosphamide and diabetes drug of pioglitazone and microbiota composition in
urinary bladder tissue (García-Perdomo et al. 2019; Kutikhin 2011; Mansour et al.
2020; Saginala et al. 2020; Zhu et al. 2020). Table 9.1 shows some significant risk
factors with the related percentage in BCa.
TLRs are pivotal elements in human immune system. The occurrence of SNPs in
TLR genes may lead to different cancers, e.g. BCa. Table 9.2 shows different
characteristics of TLRs and the association between the occurrence of SNPs in
TLR genes and BCa.
Epigenetics is known as an important scientific discipline which is involved in
cancer biology and enables us to recognize inheritable changes that are in association
with genes dysfunctions and dysregulations. Epigenetic factors can affect genomic
pool throughout aberrantly DNA methylation (hyper-, hypo methylation), nucleo-
some disposition, post-translational modification of histones which may lead to
abnormalities in chromatin structures, etc. These characteristics depict the
Table 9.1 The risk factors in BCa initiation and development
Risk factors
Percentage of
bladder cancer
development References
Aromatic amines including:
4,4
0
-methylenebis (2-chloroaniline),
4-aminobiphenyl, 2-naphthylamine,
4-nitrobiphenyl, Benzidine
10–30% (Czerniak et al. 2016; Paparo
and Fallahi 2017; Tang et al.
2012)
Fungicides 10–15% (Czerniak et al. 2016; Tang
et al. 2012)
Hair dye 10–15% (Czerniak et al. 2016; Tang
et al. 2012)
House paint 10–15% (Czerniak et al. 2016; Tang
et al. 2012)
Metals 10–15% (Czerniak et al. 2016; Tang
et al. 2012)
Motor vehicle exhaust 10–15% (Czerniak et al. 2016; Tang
et al. 2012)
Plastics 10–15% (Czerniak et al. 2016; Tang
et al. 2012)
Obesity 10–20% (Paparo and Fallahi 2017)
Red meat 25% (Li et al. 2014b)
Processed meat 33% (Li et al. 2014b)
Tobacco (smoking) 50–400% (Saginala et al. 2020; Yazbek-
Hanna and Jain 2020)
People with history of bladder cancer in
their family
200% (Czerniak et al. 2016; Tang
et al. 2012)
Schistosomiasis 5% (Saginala et al. 2020)
9 The Role of Toll-Like Receptor (TLR) Polymorphisms in Urinary Bladder Cancer 285
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