Tumor Biology

, Volume 37, Issue 7, pp 9357–9366 | Cite as

Influence of XPC, XPD, XPF, and XPG gene polymorphisms on the risk and the outcome of acute myeloid leukemia in a Romanian population

  • Claudia Bănescu
  • Mihaela Iancu
  • Adrian P. Trifa
  • Minodora Dobreanu
  • Valeriu G. Moldovan
  • Carmen Duicu
  • Florin Tripon
  • Andrei Crauciuc
  • Cristina Skypnyk
  • Alina Bogliș
  • Erzsebeth Lazar
Original Article

Abstract

XPC, XPD, XPF, and XPG genes are implicated in the nucleotide excision repair (NER) system. Gene polymorphisms in NER repair system may influence the individual’s capacity to recognize and repair DNA lesions, thus increasing the cancer risk. We hypothesized that these gene polymorphisms might influence the probability of developing acute myeloid leukemia (AML). We investigated the XPC, XPD, XPF, and XPG gene polymorphisms in 108 AML cases and 163 healthy controls. Also cytogenetic analyses besides FLT3 and DNMT3A mutations status were investigated. We found that variant genotypes (heterozygous and homozygous) of XPD 2251A > C and 22541A > C and the heterozygous genotype of XPG 3507G > C were associated with the risk of developing AML (OR = 2.55; 95% CI = 1.53–4.25; p value <0.001; OR = 1.66, 95 % CI = 1.02–2.72; p value = 0.047, and OR = 2.36; 95 % CI = 1.32–4.21; p value = 0.004, respectively). No association was found between white blood cell counts, FLT3, DNMT3A mutations, cytogenetic risk group, and variant genotypes of none of the analyzed polymorphisms. Variant homozygous XPF 673C > T genotype was associated with higher dose of cytosine arabinoside treatment administrated to AML patients (p value = 0.04). No differences were found regarding survival time and variant genotype in the investigated gene polymorphisms with the exception of XPD 2251A > C. In conclusion, XPD 22541A > C, XPD 2251A > C, and XPG 3507G > C gene polymorphisms confer susceptibility to AML, while XPC 2920A > C, XPF-673C > T, XPF 11985A > G are not associated with AML.

Keywords

XPC XPG XPF XPD Gene polymorphism AML 

Notes

Acknowledgments

This work was supported by Internal Research Grants of the University of Medicine and Pharmacy Tîrgu Mureş, România. Project No. 19/11.12.2013.

Authors’ contributions

CB designed the study, performed genetic investigations of individuals included in the study, and wrote the manuscript. APT also designed the research and critically revised the manuscript. CD, VGM, FT, AC, and AB performed genetic analysis and collected the data from controls. Statistical analysis was performed by MI. CS and MD participated to the design of the study and performed critical revisions of the manuscript. EL collected data and blood samples from the AML cases and was implicated in the design of the study. The final version of the manuscript was read and approved by the authors.

Compliance with ethical standards

Our research was conducted according to the principles of the Helsinki Declaration and an informed consent was obtained from all individuals included in the present study.

Conflicts of interests

None

Ethical approval

“All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.”

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Copyright information

© International Society of Oncology and BioMarkers (ISOBM) 2016

Authors and Affiliations

  • Claudia Bănescu
    • 1
  • Mihaela Iancu
    • 2
  • Adrian P. Trifa
    • 3
  • Minodora Dobreanu
    • 4
  • Valeriu G. Moldovan
    • 1
  • Carmen Duicu
    • 5
  • Florin Tripon
    • 1
  • Andrei Crauciuc
    • 1
  • Cristina Skypnyk
    • 6
  • Alina Bogliș
    • 1
  • Erzsebeth Lazar
    • 7
  1. 1.Department of Medical GeneticsUniversity of Medicine and Pharmacy Tirgu MuresTirgu MuresRomania
  2. 2.Department of Medical Informatics and Biostatistics“Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-NapocaCluj-NapocaRomania
  3. 3.Department of Medical Genetics“Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-NapocaCluj-NapocaRomania
  4. 4.Department of Laboratory MedicineUniversity of Medicine and Pharmacy Tirgu MuresTirgu MuresRomania
  5. 5.Pediatric ClinicUniversity of Medicine and Pharmacy Tirgu MuresTirgu MuresRomania
  6. 6.Al Jawhara Center for Molecular Medicine, College of MedicineArabian Gulf UniversityManamaBahrain
  7. 7.Hematology Clinic 2University of Medicine and Pharmacy Tirgu MuresTirgu MuresRomania

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