The Role of DNA Repair (<i>XPC</i>, <i>XPD</i>, <i>XPF</i>, and <i>XPG)</i> Gene Polymorphisms in the Development of Myeloproliferative Neoplasms
Adriana-Stela Crișan,
Florin Tripon,
Alina Bogliș,
George-Andrei Crauciuc,
Adrian P. Trifa,
Erzsébet Lázár,
Ioan Macarie,
Manuela Rozalia Gabor,
Claudia Bănescu
Affiliations
Adriana-Stela Crișan
Genetics Department, ‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Gheorghe Marinescu 38, 540142 Targu Mures, Romania
Florin Tripon
Genetics Department, ‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Gheorghe Marinescu 38, 540142 Targu Mures, Romania
Alina Bogliș
Genetics Department, ‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Gheorghe Marinescu 38, 540142 Targu Mures, Romania
George-Andrei Crauciuc
Genetics Department, ‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Gheorghe Marinescu 38, 540142 Targu Mures, Romania
Adrian P. Trifa
Department of Genetics, ‘Victor Babeș’ University of Medicine and Pharmacy, 300041 Timisoara, Romania
Erzsébet Lázár
Department of Internal Medicine, ‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology, 540142 Targu Mures, Romania
Ioan Macarie
Department of Internal Medicine, ‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology, 540142 Targu Mures, Romania
Manuela Rozalia Gabor
Department of Economic Sciences, ‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology, 540136 Targu Mures, Romania
Claudia Bănescu
Genetics Department, ‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Gheorghe Marinescu 38, 540142 Targu Mures, Romania
Background and Objectives: Several polymorphisms have been described in various DNA repair genes. Nucleotide excision DNA repair (NER) detects defects of DNA molecules and corrects them to restore genome integrity. We hypothesized that the XPC, XPD, XPF, and XPG gene polymorphisms influence the appearance of myeloproliferative neoplasms (MPNs). Materials and Methods: We investigated the XPC 1496C>T (rs2228000, XPC Ala499Val), XPC 2920A>C (rs228001, XPC Lys939Gln), XPD 2251A>C (rs13181, XPD Lys751Gln), XPF-673C>T (rs3136038), XPF 11985A>G (rs254942), and XPG 3507G>C (rs17655, XPG Asp1104His) polymorphisms by polymerase chain reaction–restriction fragment length polymorphism analysis in 393 MPN patients [153 with polycythemia vera (PV), 201 with essential thrombocythemia (ET), and 39 with primary myelofibrosis (PMF)] and 323 healthy controls. Results: Overall, we found that variant genotypes of XPD 2251A>C were associated with an increased risk of MPN (OR = 1.54, 95% CI = 1.15–2.08, p = 0.004), while XPF-673C>T and XPF 11985A>G were associated with a decreased risk of developing MPN (OR = 0.56, 95% CI = 0.42–0.76, p p Conclusions: In light of our findings, XPD 2251A>C polymorphism was associated with the risk of developing MPN and XPF-673C>T and XPF 11985A>G single nucleotide polymorphisms (SNPs) may have a protective role for MPN, while XPC 1496C>T, XPC 2920A>C, and XPG 3507G>C polymorphisms do not represent risk factors in MPN development.
