The Methylenetetrahydrofolate Reductase (MTHFR) 677 C>T Polymorphism Increases the Risk of Developing Chronic Myeloid Leukemia - A Case-Control Study

The purpose of the study is to investigate the influence of 677 C>T and 1298 A>C polymorphism in The methylenetetrahydrofolate reductase is a risk factor for giving rise to chronic myeloid leukemia through a case-control study. The study investigated chronic myeloid leukemia through the case-control study, which is slow progressing rare blood cancer begins in the bone marrow. The investigation adopted allele-specific PCR techniques and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for investigating polymorphism of 677 C>T and 1298 A>C of The methylenetetrahydrofolate reductase gene. The investigation included 151 patients with chronic myeloid leukemia and 305 controls. The result presentation was justified and accurate. The clear explanation in the introduction addressed how the genetics influence the disease on the molecular level whereas discussion exhibited the experimentally that 677 C>T increases the risk of chronic myeloid leukemia.

Running head: CHRONIC MYELOID LEUKEMIA
Chronic myeloid leukemia
Name of the Student
Name of the University
Author note

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Question 2
The purpose of the study, Bănescu et al. ( 2015), is to investigate experimentally the
influence of 677 C>T and 1298 A>C polymorphism in The methylenetetrahydrofolate reductase
is a risk factor for giving rise to chronic myeloid leukemia through a case-control study.
Question 3
In the research Bănescu et al. (2015), the study investigated chronic myeloid leukemia
through the case-control study, which is slow progressing rare blood cancer begins in the bone
marrow.
Question 4
In the research Bănescu et al. ( 2015), the investigation adopted allele-specific PCR
techniques and polymerase chain reaction-restriction fragment length polymorphism (PCR-
RFLP) for investigating polymorphism of 677 C>T and 1298 A>C of The
methylenetetrahydrofolate reductase gene.
Question 5
In the research Bănescu et al. ( 2015), the investigation included 151 patients with
chronic myeloid leukemia and 305 controls. Out of 151 participants having chronic myeloid
leukemia, 5 patients were women and 86 were men . Out of 305 participants with no history of
malignancy, 179 participants’ women and 126 were men.
Question 6
In the research Bănescu et al. ( 2015), the result presentation were justified and accurate.
The result was stated accurately and researchers provided the tabular representation of the

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statistical analysis of the result in the investigation. However, researchers have failed to examine
potential bias for a case-control study. According to Parahoo (2014), proper clarification and
examination of potential bias aid in reducing the chances of getting bias results. Moreover, the
researcher failed to show the data of Hardy-Weinberg equilibrium for strengthening the resulted.
According to Waples, (2014), Hardy Weinberg equilibrium determination is crucial since the
equilibrium states the amount of genetic variation in a population will remain constant from one
generation to another generation. The population within the equilibrium indicated that the allele
frequency would stay the same across the generation. Besides, the result of the investigation was
based on solely Romanian population.
Question 7
In the research Bănescu et al. (2015), adequate discussion of findings was described in
the study. Results of the statistical analysis such as the Pearson chi-squared test, R environment
for statistical computing and graphics, ANOVA test was used for determining homogeneity of
variances. Moreover, the prime strength of the study is that researchers discussed the results of
experiments in the discussion part with the support of other secondary data such as literature
review and investigation result from other simultaneous studies.
Question 8
No. The investigation also conducted by other researchers to find out the association
between the 677 C> T, 1298 A>C polymorphism with chronic myeloid leukemia. (Qin et al.,
2014), (Moon et al., 2007), (Saadat et al., 2014) and (Hussain et al., 2012) conducted a similar
investigation.
Question 9

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In the research Bănescu et al. (2015), the clear explanation in the introduction addressed
how the genetics influence the disease on the molecular level whereas discussion exhibited the
experimentally that 677 C>T increases the risk of chronic myeloid leukemia. In the introduction,
researchers described that Chronic myeloid leukemia observed in the patient when fusion
between BCR and ABL observed and this genetic alteration considered as a mutation. 677 C>T
and 1298 A>C Polymorphisms of the MTHFR gene are responsible for a reduction of enzyme
activity for the individuals who carriers variant allele. The study also suggested that 677 C>T
and 1298 A>C Polymorphisms were associated with other cancers. However, 677 C>T increased
the risk in Romanian population.
Question 10
Being advanced practitioner of nursing, the article helped me to acquire knowledge about the
chronic myeloid leukemia. The articled provided a brief overview of the case-control study in
gene level and molecular mechanism of chronic myeloid leukemia. Therefore, this article will
assist me to evaluate the prime reasons of malignancy when will encounter such patients in
future practice and come up with better interventions for the patient. it will also assist me to
demonstrate the prime reason in molecular level when I will communicate with family members
of the patients and provide adequate information relevant to the discussion. Furthermore, I will
be able to amend the clinical guidelines of most effective care with the aim of improving patient
outcomes.
Question 11
Although the article is appropriate enough to gather sound knowledge about chronic myeloid
leukemia, the study failed to provide any information related to the nursing interventions. With

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the support of other primary and secondary studies, I will be to make adequate changes in my
future practice of nursing which will further help me to provide holistic, competent patient-
centric care and aid in achieving patient satisfaction.

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References:
Bănescu, C., Iancu, M., Trifa, A. P., Macarie, I., Dima, D., & Dobreanu, M. (2015). The
methylenetetrahydrofolate reductase (MTHFR) 677 C> T polymorphism increases the
risk of developing chronic myeloid leukemia—a case-control study. Tumor
Biology, 36(4), 3101-3107.
Hussain SR, Naqvi H, Raza ST, Ahmed F, Babu SG, Kumar A, et al. Methylenetetrahydrofolate
reductase C677T genetic polymorphisms and risk of leukaemia among the North Indian
population. Cancer Epidemiol. 2012;36:e227–31
Moon HW, Kim TY, Oh BR, Min HC, Cho HI, Bang SM, et al. MTHFR 677CC/1298CC
genotypes are highly associated with chronic myelogenous leukemia: a case–control
study in Korea. Leuk Res. 2007;31:1213–7.
Parahoo, K. (2014). Nursing research: principles, process and issues. Palgrave Macmillan.
Qin YT, Zhang Y, Wu F, Su Y, Lu GN, Wang RS. Association between MTHFR
polymorphisms and acute myeloid leukemia risk: a meta-analysis. PLoS One.
2014;9:e88823.
Saadat M. Haplotype analysis of the C677T and A1298C polymorphisms of MTHFR and
susceptibility to chronic myeloid leukemia. Med Oncol. 2014;31:871.
Waples, R. S. (2014). Testing for Hardy–Weinberg proportions: have we lost the plot?. Journal
of Heredity, 106(1), 1-19.

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