The Role of DNA Repair (, , , and Gene Polymorphisms in the Development of Myeloproliferative Neoplasms.

: 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 , , , and gene polymorphisms influence the appearance of myeloproliferative neoplasms (MPNs). : We investigated the 1496C>T (rs2228000, Ala499Val), 2920A>C (rs228001, Lys939Gln), 2251A>C (rs13181, Lys751Gln), -673C>T (rs3136038), 11985A>G (rs254942), and 3507G>C (rs17655, 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. : Overall, we found that variant genotypes of 2251A>C were associated with an increased risk of MPN (OR = 1.54, 95% CI = 1.15-2.08, = 0.004), while -673C>T and 11985A>G were associated with a decreased risk of developing MPN (OR = 0.56, 95% CI = 0.42-0.76, < 0.001; and OR = 0.26, 95% CI = 0.19-0.37, < 0.001, respectively). : In light of our findings, 2251A>C polymorphism was associated with the risk of developing MPN and -673C>T and 11985A>G single nucleotide polymorphisms (SNPs) may have a protective role for MPN, while 1496C>T, 2920A>C, and 3507G>C polymorphisms do not represent risk factors in MPN development.