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2.7.4 Pharmaco-Genomic Effects of Uridine Diphosphate
Glucuronosyltransferase1A1 (UGT1A1) SNPs
Polymorphisms of the UGT1A1 gene promoter region profoundly influence the
pharmaco-kinetic and pharmaco-dynamic properties of drug irinotecan benefits
and risks (Carlini et al. 2005; Toffoli et al. 2006; Hoskins et al. 2008; Liu et al.
2014). The drug irinotecan together with fluorouracil or leucovorin is the most
common first-line chemotherapeutic agent used for colorectal cancer treatment
(Meyer and Cohen 2011; Hill and Sharma 2011). Inside the body irinotecan reacts
with carboxyl-esterase which metabolizes the drug to produce an active, toxic, and
more potent metabolite 7-ethyl-10-hydroxycamptothecin (SN38) that needs to be
removed to avoid the increased frequency of adverse effects such as diarrhea and
neutropenia induced by irinotecan. The UGT1A1 gene-encoded uridine diphosphate
glucuronosyltransferase1A1 enzyme mainly mediates SN38 elimination via
inactivating and converting this toxic metabolite (SN 38) of irinotecan into SN38
glucuronide (SN38G) (Kawato et al. 1991).
Individuals that possess the allele UGT1A1*28 with seven TA repeats in TATA
box of UGT1A1 promoter exhibit significant reduction in UGT1A1 expression
leading to reduced glucuronidation of SN38 and increased susceptibility to neutro-
penia as compared to wild-type allele UGT1A1*1 with six TA repeats (Liu et al.
2014). Patients with homozygous alleles of UGT1A1*28 gene react less effectively
compared to those with one or two wild-type alleles (Iyer et al. 2002). UGT1A1*28
genotype moderately predicts the acute hematological toxicity induced by irinotecan
at intermediary dosages and potently prognostic at higher dosages but such patients
exhibit similar toxicity incidence when compared with other patients (Hoskins et al.
2007).
The UGT1A1*28 polymorphism is not alone leading to neutropenia induced by
irinotecan but other polymorphisms including UGT1A1, UGT1A7, and UGT1A9 as
well as haplotype assessment is essential for predicting toxicity induced by
irinotecan rather than depending on single UGT1A1 polymorphism. With SNPs
the patients at higher risk of acute hematological toxicity can be better predicted.
2.7.5 Pharmaco-Genomic Effects of Dihydropyrimidine
Dehydrogenase (DPYD) SNPs
Patients exhibiting diminished activity of DPYD accumulate 5-fluorouracil (5-FU)
and as a result suffer from lethal toxicities such as mucositis, neural complications,
neutropenia, and even death (Diasio 2001; Lyss et al. 1993). The drug 5-FU is
usually used together with many chemotherapeutic agents for the management of
solid tumors like colorectal cancer (Schwab et al. 2008). This pro-drug undergoes
compound metabolic reactions. Nearly 5 percent of inoculated 5-FU after anabolism
is transformed into cytotoxic nucleotides that inhibit TYMS gene-encoded
thymidylate synthase or gets incorporated in genetic material (DNA and RNA)
responsible for its antitumor action, whileas most of the given 5-FU gets catabolized
2 Single Nucleotide Polymorphisms and Pharmacogenomics 43
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into biologically inactive metabolite, 5,6-dihydro-5-fluorouracil via the action of
DPYD, a rate limiting enzyme (Heggie et al. 1987). Diminished activity of DPYD
results from DPYD gene polymorphism (Schwab et al. 200 8). The most prevalent
polymorphism in DPYD is DPYD*2A which is related to reduced activity of DPYD.
Most of the patients with DPYD*2A polymorphism experienced acute toxicity due
to 5-FU (Van Kuilenburg et al. 2002).
2.8 Cancer Pharmaco-Genetics and Treatment
Cancer pharmaco-genetics nowadays receives more public interest owing to poten-
tial of individualized treatment for cancer, mitigating toxicity whereas optimizing
effectiveness. Cancer pharmaco-genetics enables researchers to identify patients
with severe risk of toxicity or others expected to gain from a personalized medica-
tion, which thereby assists researchers’ progress towards the eventual objective of
individualized therapy for cancer management. Cancer involves patient’s germline
genome as well as tumor somatic genome. On the other hand, cancer pharmaco-
genomics faces difficulty of performing clinical trials, easy accessibility to healthy
participants for drug trials, and multi-genic drug reaction monitoring. For certain
types of chemotherapy drugs, it has become a fact that the outcome of cancer
management on the basis of genetic polymorphisms is predicted before treatment,
for instance, thiopurine S-methyltransferase (TPMT) gene variants in response to
thiopurines, UGT1A1 variants to irinotecan, DPD (dihydropyrimidine dehydroge-
nase), and GSTs (Glutathione-S-transferases) to 5-Fluorouracil.
TPMT gene variants can alter the outcome of treatment in patients that receive
chemotherapy drugs. Of certain gene variants, TPMT*2 (238G > C), TPMT*3A
(460 > GA and 719A > G), TPMT*3B (460G > A), and TPMT*3C (719A > G)
explain around 95% of cases of with low or intermediate enzymatic activity
(Otterness et al. 1997; McLeod et al. 2000). Some reports have demonstrated that
patients with TPMT deficiency have extremely higher risk of acute hematopoietic
toxicity when administered with usual thiopurine doses (Lennard and Van Loon
1989; Evans et al. 1991). Studies have also shown that TPMT heterozygous patients
are intermediately susceptible to toxicity associated with dosage-limit (Black et al.
1998; Relling et al. 1999). Inadequate drug response has been reported in patients
with cancer in head and neck that were treated with cisplatin and 5-FU, which could
be attributed to elevated intracellular cisplatin concentration, resulted from interme-
diate or low enzymatic activity of TPMT (Dhawan et al. 2017).
Similarly, UGT1A1*28 variant is correlated with decreased expression of
UGT1A1 and results in decreased glucuronidation of SN-38 (Iyer et al. 2002).
Studies also reported that UGT1A1*28 variants result in dramatically elevated active
metabolite SN-38, thereby raising the risk of side effects like leukopenia and
diarrhea during treatment with irinotecan (Ando et al. 2000; Iyer et al. 2002). In a
study by Font et al. (2003) about 34% patients with non-small cell lung cancer
having normal genotype show disease regulation compared to 54% of patients with
variant genotypes.
44 A. Arafah et al.
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In DPD gene several polymorphisms linked with decreased activity of DPD has
been reported (Wei et al. 1996; McLeod et al. 1998). The DPD*2A gene variant
originates due to G > A transition occurring at GT splice donor site flanking DPD
gene exon 14 (IVS14 + 1G > A). A correlation has been observed between the
reduced activity of DPD and acute or lethal toxicity from normal 5-FU doses (Van
Kuilenburg et al. 2002 ). A study on carcinoma patients (neck and head carcinoma)
with IVS14 + 1G > A gene variant demonstrated low response to 5-FU treatment
(Dhawan et al. 2017). DPYD*9A variant has been related with 5-FU therapeutic
effect in patients with acute lymphoblastic leukemia (Zhao et al. 2016).
GSTs have many gene variants that may contribute to poor (e.g. GSTP1 variant)
or total absence (e.g. GSTM1 and GSTT1 variants) of enzymatic function. A study
has found association between CYP450 and GST polymorphisms and head and neck
carcinomas (Ruwali and Parmar 2010). GSTP1 SNP was found linked with the
overall survival of 107 metastatic colorectal cancer patients that were given a
combined chemotherapy of 5-FU and oxaliplatin (Stoehlmacher et al. 2002). A
non-synonymous SNP of XPD gene (Xeroderma pigmentosum group D) at the
codon 751 with lysine replaced by glutamine has been substantially correlated
with clinical outcome in metastatic colorectal cancer patients given the treatment
of platinum agents (Park et al. 2001).
2.9 Limitations of Using SNPs as a Pharmaco-Genomic
Analytical Tool
Pharmaco-genomics needs a broad array of medical and genetic data for correlating
them. Pharmacogenomic studies until now are largely relying on limited data
obtained from clinical trials on small group of volunteer patients making the linkage
disequilibrium estimation usually impossible and inaccurate. Moreover, the clinical
trials of novel therapeutic drugs are often performed on only some ethnic
populations such as Americans, Europeans or Caucasians but in fact, the drugs are
marketed globally and used by almost all racial groups around the globe. Thus,
majority of pharmaco-genomic studies are typically restricted to such genetically
heterogeneous populations wherein clinical trials are performed (McGraw and
Waller 2012), and which cannot represent the heterogeneity globally. Even though
the cost for sequencing has been reduced with the advent of Next Generation
Sequencing technology but for a common individual it is still quite expensive to
get his genome sequenced for SNPs as well as correlating clinical data and SNPs and
subsequent analysis also acts as a limiting factor (Gattepaille et al. 2013).
2.10 Conclusion
Genetic polymorphisms even in an individual gene including drug receptor and
transporter coding genes as well as the gene coding for cell signaling pathways may
be a crucial predictor of drug reaction. SNPs have been seen linked with different
2 Single Nucleotide Polymorphisms and Pharmacogenomics 45
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drug metabolism and their identification will help in identifying persons that may
suffer harmful medication reactions. Pharmaco-genomics is well capable of utilizing
these individual genetic variants for developing tailored medicines and their trans-
formation into clinical practices as a result reducing the patient exposure to less or
non-effective drugs or drugs with adverse effects. This field of science has evolved
as a hope of treatment for patients suffering from untreatable diseases as well as
protection for patients producing lethal health complication as a result of adverse
drug responses. However, further extensive large samp le sized clinical trial studies
are necessitated for validating the transformation of pharmaco-genomics into clinical
practice.
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