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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 represent risk factors in MPN development.
摘要：
背景和目的：已经在各种DNA修复基因中描述了几种多态性。核苷酸切除DNA修复(NER)检测DNA分子的缺陷并校正它们以恢复基因组完整性。我们假设XPC，XPD,XPF,和XPG基因多态性影响骨髓增殖性肿瘤（MPN）的出现。材料和方法：我们研究了XPC1496C>T（rs2228000，XPCAla499Val），XPC2920A>C(rs228001,XPCLys939Gln),XPD2251A>C(rs13181,XPDLys751Gln),XPF-673C>T(rs3136038),XPF11985A>G(rs254942),和XPG3507G>C（rs17655，XPGAsp1104His）多态性通过聚合酶链反应-限制性片段长度多态性分析在393例MPN患者[153例真性红细胞增多症（PV）中，201患有原发性血小板增多症（ET），39例原发性骨髓纤维化（PMF）]和323例健康对照。结果：总体而言，我们发现XPD2251A>C的变异基因型与MPN的风险增加相关(OR=1.54,95%CI=1.15-2.08,p=0.004),而XPF-673C>T和XPF11985A>G与发生MPN的风险降低相关(OR=0.56,95%CI=0.42-0.76,p<0.001;OR=0.26,95%CI=0.19-0.37,p<0.001)。结论：根据我们的发现，XPD2251A>C多态性与发生MPN的风险相关，XPF-673C>T和XPF11985A>G单核苷酸多态性（SNPs）可能对MPN具有保护作用，而XPC1496C>T，XPC2920A>C,和XPG3507G>C多态性不代表MPN发展的危险因素。
