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HOW GENETIC POLYMORPHISM AFFECTS HUMAN HEALTH

Name: Lawin Nally Osman

Course: Cancer Studies

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How Genetic Polymorphism Affects Human Health
Introduction
Genetic polymorphism refers to the existence of a gene in more than two forms. More
than two genetically determined phenotypes occur in a particular population. Unlike a mutation,
genetic polymorphism involves variation in DNA sequence. Though genetic polymorphism is
important in promoting diversity, research shows that it affects human health. Nutritional needs
are usually not general for an entire population. They are specific to population sub-groups. For
instance, pregnant women, breastfeeding mothers and the elderly require distinct nutritional
needs. Presently, understanding genetic variation in humans has led to the examination of its
effects on human health. Small variations in the genetic code may lead to a lower or greater
expression of particular genes, which may code for specific enzymes. Through the use of
examples, this paper discusses the impact of genetic polymorphism on human health.
Innate immune genetic polymorphisms have been found in tuberculosis
Among the leading diseases that cause high mortality in the world is tuberculosis (TB),
an infectious disease caused by Mycobacterium tuberculosis (Azad et al., 2012). Humans are the
reservoirs for the bacteria. The disease is worsened by the surfacing of extensively drug-resistant
(XDR) and multidrug resistant (XDR) strains of bacteria. TB is a major public health issue. It
occurs at diverse rates among specific ethnicities, families, and races. This means that there is a
genetic tendency to the susceptibility of TB. Complex interfaces of the TB-causing bacteria with
host genetic and environmental factors participate in the disease development. The genetic
composition of the host provide a significant explanation of the reason some individuals are less
or more vulnerable to infection. For instance, twin biological studies show that host genetics

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influence susceptibility to tuberculosis (Edler & Kitsos, 2005). Widespread TB infections in
humans over a long time suggest dominant evolutionary pressures in the relation between
pathogen and host genomes (Azad et al., 2012, p.46). Patent signatures of evolutionary
assortment pressures are found in many human gene families present in TB pathogenesis.
Single Nucleotide Polymorphism (SNP) are linked to Endometriosis
There is a popular genetic change observed in individuals known as Single Nucleotide
Polymorphism (SNP) which symbolizes dissimilarity in a particular DNA building block
(Marchese, 2014). SNP occurs all through an individuals DNA. The variations occur in the DNA
amid genes. When SNP occurs near or within a genetic material, it may participate in disease
development by altering the gene function. Biological research has discovered SNPs that
envisage a persons reaction to some drugs, vulnerability to ecological toxins, and the danger of
acquiring disease (Haslberger, 2010). There are many SNPs found inside the human body. Some
are found in estrogen-metabolism genetic material associated with advanced vulnerability for
estrogen-related conditions in women. Hence, there is a connection between SNP in genes and
women health problems. some women health circumstances are associated with particular
Single Nucleotide Polymorphism of cytochrome P450 (CYP) proteins (Marchese, 2014). One of
the conditions is endometriosis, a common disease that causes infertility and menstrual pain.
Glutathione S-transferases (GSTs) participate in metabolizing carcinogens and xenobiotics. An
enzyme of GST family, GSTMI, detoxifies oxidative stress product and other toxicants
throughout ovulation. gene polymorphism of GSTM1 is linked to the endometriosis condition
(Marchese, 2014).

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Genetic polymorphism influences nutritional requirements
The effect of genetic disparity on nutritional needs is more delicate than that of
pharmaceutical causes. Nutritional impact occurs for a long period. Hence, genetic disparity that
bestows abnormal nutrient necessity is virtually irreconcilable with life, and hence unrealistic.
For instance, SNPs that affect the utilization of folate are threat factors to miscarriage (Stover,
2006). They are therefore not in equilibrium populations according to hardy-Weinberg
equilibrium principles. This is to say that a woman pregnant with a fetus caring two alleles that
hinder the use of a specific nutrient is probable to have a miscarriage than a lady whose
premature baby has more popular useful variants.
Moreover, various alleles and genes are known to affect the utilization of nutrients. Gene
polymorphism in Methylene Tetrahydrofolate Reductase (MTHFR) is found to change folate
metabolism such that there is an increase in the vulnerability for Neural Tube Defect (NTD) and
heart disease although a decrease in the risk of colon cancer (Stover, 2006, p.437). The
biochemical interruption and disease risk can be improved through increased intake of folate.
Presently, this is still the best illustration of gene dissimilarity that can affect a Recommended
Dietary Allowance (RDA), and support the idea that heritable variation alters nutrient use and
dietary necessities. Additional gene polymorphisms modify the metabolism of homocysteine, the
intake of folate and transport of folate. Protein polymorphisms that are involved in the
metabolism of vitamin B-12 are linked to NTDs as well as the development of colon cancer and
Down syndrome (Stover, 2006, p.437S). This puts forwards the potential to influence nutrient
requirements. Also, receptor polymorphisms in vitamin D have been connected to adult and child
asthma. In other genes, polymorphism affects alcohol and lactose metabolism, and lipid
pathways. Many of the SNPs are linked to particular ethnic groups and show genome autographs

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for affirmative assortment, demonstrating that though such SNPs show susceptibility to adverse
results presently, it is probable that they were originally beneficial.
Genetic Polymorphism and Breast Cancer
Research shows that there is a link between estrogen-metabolizing genetic
polymorphisms and estrogen-reliance (Newnham & Ross, 2009). The major enzyme CYP3A4
catalyzes the metabolism of exogenous and endogenous agents that may participate in cancer
development. It is liable for the metabolism of hormones and most of the pharmaceutical
medication. CYP3A4 polymorphism is associated with increased susceptibility to breast cancer
and also the toxicity of taxane in breast cancer patients who use taxanes while undergoing
chemotherapy (Newnham & Ross, 2009). Genetic polymorphisms of IAI and YP1BI are
connected to breast cancer in Caucasian women. For instance, a recent study associated SNPs of
CYP17, CYP1AI, and perfluorooctanoic acid to increased vulnerability to cancer. They are water
pollutants. MTHFR protein is important for genetic material methylation and synthesis. Various
studies have assessed the link between breast cancer risk and MTHFR polymorphism. A recent
research shows that polymorphism of MTHFR C677T was considerably connected to the risk of
breast cancer in the Chinese people.
Genetic polymorphism affects human necessity for Choline
Choline is a vital nutritional necessity for humans, and its lack can lead to organ
dysfunction. It provides the methyl groups required to manufacture the principal methyl donor
known as S-adenosylmethionine. Studies show that genetic polymorphism plays a primary role
in the deficiency of choline. The human body can manufacture choline through the methylation
of phosphatidylethanolamine (PE) molecule into the phosphatidylcholine (PC) molecule

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(Beyond MTHFR, 2014). This is accomplished by enzyme phosphatidylethanolamine Nmethyltransferase (PEMT) that occurs in the muscle, liver, fat and brain. Just like other
methylation proteins such as MTHFR, the enzyme can contain genetic SNPs that slow its
function. As a result, the bodys function of producing choline in adequate amounts is altered,
and this leads to choline deficiency. Besides, choline production is connected to the sex
hormone, estrogen. Women, especially the pregnant ones produce high amounts of choline hence
the body organs and the fetus are nourished. However, estrogen alone cannot prevent women
from experiencing low-choline levels especially if the gene that participates in choline
production is slowed down by a polymorphism. Research shows that the PEMT gene responsible
for choline synthesis is vulnerable to common polymorphism which changes its function by
slowing its process. A recent study on the North Carolina population placed individuals of
distinct ages on a choline-deficient diet for 42 days (Beyond MTHFR, 2014). During the study
period, the participants liver function was consistently assessed for any signs of damage and
fatty liver. After six weeks, 63% of the participants had liver dysfunction especially men and
postmenopausal women. This explains that though fertile women produce high amounts of
estrogen which produce adequate amounts of choline, a PEMT gene polymorphism is the only
way of explaining choline deficiency in women with high levels of estrogen.
Conclusion
This paper has discussed the impact of genetic polymorphism on human health. Genetic
polymorphism involves variation in DNA sequence. Complex interfaces of the TB-causing
bacteria with host genetic and ecological factors participate in the advancement of tuberculosis.
The hereditary factors of the host provide a significant explanation of the reason some
individuals are less or more vulnerable to infection. Also, Various women health conditions have

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been associated with particular Single Nucleotide Polymorphisms of cytochrome P450 (CYP)
proteins. One of the conditions is endometriosis, a common disease that causes infertility and
menstrual pain. Besides, gene polymorphism in Methylene Tetrahydrofolate Reductase
(MTHFR) is found to change folate metabolism such that there is an increase in vulnerability for
Neural Tube Defect (NTD) and cardiovascular disease, but a decrease in the risk of colon cancer.
CYP3A4 polymorphism is associated with increased susceptibility to breast cancer and also the
toxicity of taxane in breast cancer patients who use taxanes while undergoing chemotherapy.
Finally, research has shown that the PEMT gene responsible for choline synthesis is vulnerable
to common polymorphism which changes its function by slowing its process. Research has been
done on genetic polymorphism and human health. However, the subject necessitates additional
research especially on SNPs, as well as, come up with methods of using genetic polymorphism
in preventing diseases that are associated with SNP.

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