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Genetic Polymorphisms of Essential
Immune Pathogenic Response Genes
and Risk of Cervical Cancer
7
Saniya Nissar, Aga Syed Sameer, and Mujeeb Zafar Banday
Abstract
The incidence of cervical cancer (CC) shows a geographical variation with the
economic status of the country, the countries having lower resources (i.e., those
with HDI <0.80) have higher incidence of CC than the highest-resource
countries. The incidence and mortality rates of cervical cancer are two to four
times higher in developing and poorer nations of the world with limited resources
in comparison with the developed nations with high average income and
resources. The various factors, which have been associated with an incre ased
risk of cervical cancer include low socio-economic status, smoking, infection by
human papilloma virus (HPV), and chlamydia, first coitus at young age, marriage
at or before the age of 18 years, chronic use of oral contraceptives, sex with
multiple partners, or spouse having sex with multip le partners, and multiparity.
But HPV infection is regarded as the pivotal risk factor for the initiation and
progression of CC. However, the transition of CC from the foundation of HPV
infection to preinvasive lesions and finally to an invasive cancer takes decades.
The contribution of genetic variation, in particular gene polymorphism, towards
modifying the cervical cancer risk, is of utmost importance in understandi ng the
interaction between the HPV infection and polymorphic status of various genes.
In this chapter we would be discussing the effects of polymorphisms in specific
S. Nissar · M. Z. Banday
Department of Biochemistry, Government Medical College, Srinagar, Kashmir, India
A. S. Sameer (*)
Basic Medical Sciences, College of Medicine, King Saud bin Abdulaziz University for Health
Sciences (KSAU-HS), Jeddah, Saudi Arabia
King Abdullah International Medical Research Centre (KAIMRC), National Guard Health Affairs
(NGHA), Jeddah, Saudi Arabia
e-mail: agas@ksau-hs.edu.sa
#
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_7
191
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genes involved in various critical pathways like immune response, apoptosis
control, antigen processing, DNA repair, and xenobiotic metabolism in
modulating the CC risk.
Keywords
Cervical cancer · Human papilloma virus · Polymorphism · Genetics · Risk
factors · DNA repair · Antigen · MHC · Apoptosis · Caspases · TLR · FAS
Abbreviations
ASIR Age-specific incidence rate
ASMR Age-specific mortality rate
CC Cervical cancer
CEBP CAAT/enhancer-binding protein
CIN Cervical intraepithelial neoplasia
CTLA Cytotoxic T lymphocyte antigen
DED Death effector domain
DNA Deox yribonucleic acid
DNMT DNA methyltransferases
ER Endoplasmic reticulum
ERAPs Endoplasmic reticulum aminopeptidases
FADD FAS-associated death domain
GAS Gamma activation sequence
HPV Human papilloma virus
HR High risk
HSIL High-grade squamous intraepithelial lesion
IFN Interferon Gamma
IL Interleukin
LMP Low-molecular-weight polypeptide
LR Low risk
LSIL Low-grade squamous intraepithelial lesion
Mdm2 Mouse double minute-2 homolog
MHC Major histocompatibility complex
PAMP Pathogen-associated molecular pattern
TAP Transporter associated with antigen presentation
TLR Toll-like receptors
TNF Tumor necrosis factor
TRADD TNFR-associated death domain
192 S. Nissar et al.
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7.1 Introduction
Cervical cancer (CC) is one of the major gynecological cancers and is ranked as the
fourth amongst the cancers in women worldwide with breast cancer being the
foremost common cancer and colorectal cancer and lung cancer being the second
and third most common cancers in women worldwide (Arbyn et al. 2020; Ferlay
et al. 2019; Bray et al. 2018). However, cervical cancer is the second most common
cancer amongst women in low- and middle-income countries (LMICs) (Arbyn et al.
2020; Ferlay et al. 2019; Bray et al. 2018). In the year 2018, with an age-specific
incidence rate (ASIR) of 131 per 1,00,000 women across all age groups, about
5,70,000 women developed CC and with an age-specific mortality rate (ASMR) of
69 per 1,00,000 women, almost 3,11,000 women died due to cervical cancer. In the
year 2018, the number of women who developed breast cancer, colorectal cancer,
and lung cancer were 2,090,000, 7,90,000, and 7,30,000, respectively. In the same
year, 6,27,000, 5,76,000, and 3,87,000 women died from breast cancer, colorectal
cancer, and lung cancer (Arbyn et al. 2020; Ferlay et al. 2019).
The incidence of CC shows a geographical variation with the econom ic status of
the country, the countries having lower resources (i.e., those with HDI <0.80) have
higher incidence of CC than the highest-resource countries. The incidence and
mortality rates of cervical cancer are two to four times higher in developing and
poorer nations of the world with limited resources in comparison with the developed
nations with high average income and resources (Arbyn et al. 2020).
The lowest incidence of cervical cancer has been reported from the countries
located in western Asia, while the lowest mortality burden has been reported from
Australia and New Zealand. The countries with the lowest ASIR values of less than
5 per 1,00,000 women include 12 countries located in western Asia or the part of
central-south Asia (Saudi Arabia, Yemen, Bahrain, Qatar, Kuwait, Jordan, Syria,
Iraq, Iran, Israel, Palestine, and Turkey). It also includes two countries located in
North Africa (Egypt and Tunisia), one country located in Southern Europe (Malta),
and one country located in Northern Europe (Finland). The countries with the
highest ASIR values of greater than 40 per 1,00,000 women include various
countries located in eastern, southern, and western Africa (Burkina Faso, Burundi,
Comoros, Eswatini, Guinea, Lesotho, Malawi, Mali, Madagascar, Mozambique,
South Africa, Tanzania, Uganda, Zambia, and Zimbabwe) (Arbyn et al. 2020).
The ASIR of cervical cancer shows an increasing trend after the age of 25 years.
A maximum incidence of CC is reported around the age of 40 in the countries with
the highest available resources whereas the incidence rates exhibit a continued
increasing trend up to the ages between 55 and 69 years in the lower-resource
countries. The average age at diagnosis of CC is reported to be around 53 years
worldwide (Arbyn et al. 2020; Ferlay et al. 2019).
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7.1.1 Risk Factors
The overall risk of developing CC in the lifetime is about 13.1 per 100,000 women
globally (Arbyn et al. 2020). The various factors, which have been associated with
an increased risk of cervical cancer, include low socio-economic status, smoking,
infection by human papilloma virus (HPV) and chlamydia, first coitus at young age,
marriage at or before the age of 18 years, chronic use of oral contraceptives, sex with
multiple partners, or spouse having sex with multiple partners, and multiparity
(Kashyap et al. 2019) [Fig. 7.1].
Above all, HPV infection has emerged as the pivotal risk factor for the initiation
and progression of cervical cancer. HPV infection has been reported to be associated
with about 99% of all the cases of CC and with cancers of other organs including
vulva, vagina, anus, penis, oropharynx, head and neck (ACS 2020; Formana et al.
2012; Stanley 2010). Out of 100 varieties of HPV, around 40 types have been
reported to infect the human reproductive system and transmitted sexually during
skin-to-skin contact (WHO 2020; CDC 2020). Numerous varieties of HPV have
been linked directly to various types of cancers [Table 7.1 summarizes all types of
HPVs and their role in various diseases].
Fig. 7.1 Various risk factors of cervical cancer and their dynamic interactions with HPV infection,
which ultimately lead to malignant transformation
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