Genetic analysis of thiopurine methyltransferase polymorphism in the Jordanian population

Hakooz, Nancy; Arafat, Tawfiq; Payne, Debbie; Ollier, William; Pushpakom, Sudeep; Andrews, Julie L.; Newman, William G.

doi:10.1007/s00228-010-0826-1

Cited by 17 publications

(12 citation statements)

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“…TPMT*3A allele frequency was consistent with the screened Palestinian population (0.89%), and ethnically related Israeli Arab subpopulations (0.79%) . The frequency of TPMT*3A allele was also similar to Jordanian population (0.59%), Turkish population (0.9%), and Iranian population (0.87%) . It was lower than the frequency reported for several Caucasian, African descendants, and South Americans …”

Section: Discussionsupporting

confidence: 75%

Association Between Combined Presence of Hepatitis C Virus and Polymorphisms in Different Genes With Toxicities of Methotrexate and 6‐Mercaptopurine in Children With Acute Lymphoblastic Leukemia

Abdelaziz

Elhosseiny

Khaleel

et al. 2016

Pediatric Blood & Cancer

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Section: Discussionsupporting

confidence: 75%

Association Between Combined Presence of Hepatitis C Virus and Polymorphisms in Different Genes With Toxicities of Methotrexate and 6‐Mercaptopurine in Children With Acute Lymphoblastic Leukemia

Abdelaziz

Elhosseiny

Khaleel

et al. 2016

Pediatric Blood & Cancer

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“…The frequency of TPMT*3A allele is also similar in Jordanian population (0.59) [17], Turkish population (0.9%) [18], and Iranian population (0.87%) [19]. It is lower than that reported for several Caucasian, African descendants and South American [17]. …”

Section: Discussionmentioning

confidence: 71%

Thiopurine methyltransferase genotyping in Palestinian childhood acute lymphoblastic leukemia patients

Ayesh

Harb²,

Abed

2013

BMC Hematol

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BackgroundThe genetic polymorphism of thiopurine methyltransferase (TPMT) is well characterized in most populations. Four common polymorphic alleles are associated with impaired activity of the enzyme. These are TPMT*2 (238G>C), TPMT*3B (c.460G>A), TPMT*3A (c.460G>A and c.719A>G) and TPMT*3C (c.719A>G). The aim of the present study was to determine the frequency of TPMT polymorphisms and their association with the occurrence of adverse events, during 6-mercaptopurine therapy in pediatric acute lymphoblastic leukemic (ALL) patients in Gaza Strip.MethodsA total of 56 DNA samples from all pediatric ALL patients admitted to the pediatric hematology departments of Gaza strip hospitals were analyzed. Genomic DNA from peripheral blood leukocytes was isolated and the TPMT*2, TPMT*3B TPMT*3A and TPMT*3C allelic polymorphism was determined by PCR-RFLP and allele specific PCR technique.ResultsNo TPMT*2, *3B or *3C alleles were detected. Only one, out of 56 patients, was found heterozygous for the TPMT*3A allele. Thus, the frequency of TPMT*3A allele was calculated to be 0.89%. Fourteen patients of ALL were suffering from myelotoxicity during 6-MP therapy. From our results, no significant association could be established between clinical and laboratory data and/or the presence of the mutation in TPMT gene.ConclusionTPMT*3A was the only deficiency allele detected in our population with an allelic frequency of 0.89%. Other polymorphic alleles in TPMT gene, or factors other than TPMT polymorphisms may be responsible for the development of myelosuppression in cases that don’t carry the investigated TPMT alleles (*2, *3A, *3B and *3C). Therefore, more studies are recommended to study such factors.

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“…TPMT encodes an enzyme involved in the detoxification of azathioprine, mercaptopurine and thioguanine, which are immunosuppressive drugs used in organ transplantation (24)(25)(26)(27). Five SNPs (rs75543815, rs1142345, rs1800460, rs1800462 and rs1800584) were used to investigate the frequency of five alleles ( * 2, * 3B, * 3C, * 4 and * 6) in this study (Table V).…”

Section: Resultsmentioning

confidence: 99%

Screening for 392 polymorphisms in 141 pharmacogenes

et al. 2014

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Pharmacogenomics is the study of the association between inter-individual genetic differences and drug responses. Researches in pharmacogenomics have been performed in compliance with the use of several genotyping technologies. In this study, a total of 392 single-nucleotide polymorphisms (SNPs) located in 141 pharmacogenes, including 21 phase I, 13 phase II, 18 transporter and 5 modifier genes, were selected and genotyped in 150 subjects using the GoldenGate assay or the SNaPshot technique. These variants were in Hardy-Weinberg equilibrium (HWE) (P>0.05), except for 22 SNPs. Genotyping of the 392 SNPs revealed that the minor allele frequencies of 47 SNPs were <0.05, 105 SNPs were monomorphic and 22 variants were not in HWE. Also, based on previous studies, we predicted the association between the polymorphisms of certain pharmacogenes, such as cytochrome P450 2D6, cytochrome P450 2C9, vitamin K epoxide reductase complex, subunit 1, cytochrome P450 2C19, human leukocyte antigen, class I, B and thiopurine S-methyltransferase, and drug efficacy. In conclusion, our study demonstrated the allele distribution of SNPs in 141 pharmacogenes as determined by high-throughput screening. Our results may be helpful in developing personalized medicines by using pharmacogene polymorphisms.

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Genetic analysis of thiopurine methyltransferase polymorphism in the Jordanian population

Abstract: TPMT3A and TPMT3C were the only deficiency alleles detected in the Jordanian population with an allele frequency of 0.59% and 0.30% respectively. The TPMT*3A allele frequency is found to be lower than in the European Caucasian population.

Cited by 17 publications

References 31 publications

Association Between Combined Presence of Hepatitis C Virus and Polymorphisms in Different Genes With Toxicities of Methotrexate and 6‐Mercaptopurine in Children With Acute Lymphoblastic Leukemia

Association Between Combined Presence of Hepatitis C Virus and Polymorphisms in Different Genes With Toxicities of Methotrexate and 6‐Mercaptopurine in Children With Acute Lymphoblastic Leukemia

Thiopurine methyltransferase genotyping in Palestinian childhood acute lymphoblastic leukemia patients

Screening for 392 polymorphisms in 141 pharmacogenes

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Genetic analysis of thiopurine methyltransferase polymorphism in the Jordanian population

Abstract: TPMT*3A and TPMT*3C were the only deficiency alleles detected in the Jordanian population with an allele frequency of 0.59% and 0.30% respectively. The TPMT*3A allele frequency is found to be lower than in the European Caucasian population.

Cited by 17 publications

References 31 publications

Association Between Combined Presence of Hepatitis C Virus and Polymorphisms in Different Genes With Toxicities of Methotrexate and 6‐Mercaptopurine in Children With Acute Lymphoblastic Leukemia

Association Between Combined Presence of Hepatitis C Virus and Polymorphisms in Different Genes With Toxicities of Methotrexate and 6‐Mercaptopurine in Children With Acute Lymphoblastic Leukemia

Thiopurine methyltransferase genotyping in Palestinian childhood acute lymphoblastic leukemia patients

Screening for 392 polymorphisms in 141 pharmacogenes

Contact Info

Product

Resources

About

Abstract: TPMT3A and TPMT3C were the only deficiency alleles detected in the Jordanian population with an allele frequency of 0.59% and 0.30% respectively. The TPMT*3A allele frequency is found to be lower than in the European Caucasian population.