The Role of DNA Repair (XPC, XPD, XPF, and XPG) Gene Polymorphisms in the Development of Myeloproliferative Neoplasms

Q: Which polymorphisms were not considered risk factors for MPN development?

XPC 1496C>T, XPC 2920A>C, and XPG 3507G>C were reported not to represent risk factors for MPN development.

Sep 22, 2026

Background and objectives: Several polymorphisms have been described in DNA repair genes, and nucleotide excision repair (NER) is essential for detecting and correcting DNA defects to maintain genome integrity. The study hypothesized that XPC, XPD, XPF, and XPG polymorphisms affect the development of myeloproliferative neoplasms (MPNs). Materials and methods: PCR–RFLP analysis assessed variants in 393 MPN patients and 323 healthy controls. Results: XPD 2251A>C increased MPN risk, while XPF-673C>T and XPF 11985A>G decreased risk. Conclusions: XPD 2251A>C was linked to MPN susceptibility, whereas selected XPF polymorphisms may be protective.

LanguageEnglish

CategoryResearch & Report

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Pages19

Reading Time48 min

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Abstract

Background and objectives

Materials and methods

Results

Conclusions

Introduction

medicina Article The Role of DNA Repair (XPC, XPD, XPF, and XPG) Gene Polymorphisms in the Development of Myeloproliferative Neoplasms Adriana-Stela Cris, an 1,2, Florin Tripon 1,2, Alina Boglis, 1,2, George-Andrei Crauciuc 1,2, Adrian P. Trifa 3, Erzsébet Lázár 4, Ioan Macarie 4, Manuela Rozalia Gabor 5 and Claudia Bănescu 1,2, * Citation: Cris, an, A.-S.; Tripon, F.; Boglis,, A.; Crauciuc, G.-A.; Trifa, A.P.; Lázár, E.; Macarie, I.; Gabor, M.R.; Bănescu, C. The Role of DNA Repair (XPC, XPD, XPF, and XPG) Gene Polymorphisms in the Development of Myeloproliferative Neoplasms. Medicina 2024, 60, 506 . [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)medicina60030506 Academic Editors: Călin Căinap and Nicolae Crisan Received: 1 February 2024 Revised: 13 March 2024 Accepted: 14 March 2024 Published: 19 March 2024 Copyright: © 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) . 1 Genetics Department,‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Gheorghe Marinescu 38, 540142 Targu Mures, Romania; adriana.cosma17@gmail.com (A.-S.C.); tripon.florin.2010@gmail.com (F.T.); alinaboglis@gmail.com (A.B.); [andrei.crauciuc@gmail.com](andrei.crauciuc@gmail.com) (G.-A.C.) 2 Genetics Laboratory, Center for Advanced Medical and Pharmaceutical Research,‘George Emil Palade’University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Gheorghe Marinescu 38, 540139 Targu Mures, Romania 3 Department of Genetics,‘Victor Babes,’ University of Medicine and Pharmacy, 300041 Timisoara, Romania; [trifa.adrian@gmail.com](trifa.adrian@gmail.com) 4 Department of Internal Medicine,‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology, 540142 Targu Mures, Romania; [erzsebetlazarbenedek@gmail.com](erzsebetlazarbenedek@gmail.com) (E.L.); [ioan.macarie@umfst.ro](ioan.macarie@umfst.ro) (I.M.) 5 Department of Economic Sciences,‘George Emil Palade’ University of Medicine, Pharmacy, Science, and Technology, 540136 Targu Mures, Romania; [manuela.gabor@umfst.ro](manuela.gabor@umfst.ro) * Correspondence: [claudia.banescu@umfst.ro](claudia.banescu@umfst.ro) Abstract: 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 < 0.001; and OR = 0.26, 95% CI = 0.19–0.37, p < 0.001, respectively) . 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

FAQs

Which DNA repair gene polymorphisms were analyzed in the study?

The study examined XPC 1496C>T, XPC 2920A>C, XPD 2251A>C, XPF-673C>T, XPF 11985A>G, and XPG 3507G>C using PCR–RFLP analysis.

What association did XPD 2251A>C show with myeloproliferative neoplasms (MPNs)?

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).

Did any polymorphisms appear protective against developing MPNs?

Yes. XPF-673C>T and XPF 11985A>G were associated with a decreased risk of MPN (OR = 0.56 and OR = 0.26, both with p < 0.001).

Which polymorphisms were not considered risk factors for MPN development?

XPC 1496C>T, XPC 2920A>C, and XPG 3507G>C were reported not to represent risk factors for MPN development.

Sep 22, 2026

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