Abstract
Polymorphisms that occur in DNA repair genes affect DNA repair capacity and constitute a risk factor in hematological malignancies. This study, was aimed to investigate whether xeroderma pigmentosum complementation group D (XPD) and x-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms were involved in the susceptibility to different hematological malignancies. The genotype and allele frequencies were obtained by analyzing XPD gene codon 751 in a total of 80 patients and XRCC1 gene codon 399 polymorphism in a total of 100 patients with hematological malignancies and 100 healthy controls. Mean age was 45 (range: 16 to 75) and 46 (range: 16 to 82) in the patients groups and 39.5 (range: 18 to 67) in the control group, respectively. Additionally, distribution of genotypes and alleles were compared in the patient and control groups. In the comparison of genotype and allele frequencies in hematological malignancies and healthy controls, XPD-751Gln variant was arranged and compared according to age and sex and Gln/Gln genotype was reported to be a protector, which was decreased significantly in acute myeloblastic leukemia (AML) (p = 0.042). No relationship was determined between allele frequencies (p = 0.054). In XRCC1-399, it was shown that Gln/Gln genotype was decreased significantly in AML (p = 0.014) plus all hematological malignancies (p = 0.033) and that Gln allele was present at a lower ratio in AML (p = 0.046). The distribution of polymorphism of both genes was not statistically significant in terms of age and sex. In leukemia with early relapse, XPD 751 Lys/Lys genotype was determined at a statistically higher ratio (p = 0.042). In the evaluation of both genes together, a decrease was noted in Gln/Gln + Lys/Gln haplotype frequency in hematological malignancies (p = 0.048). In this study, it was demonstrated that a decrease in Gln/Gln genotype and Gln allele acted as a protector in XPD codon 751 and XRCC1 codon 399 polymorphisms in acute myeloblastic leukemia (AML) and that an increase in Lys/Lys genotype in acute leukemia was associated with early relapse. Key words: DNA repair, XPD gene, XRCC1 gene, DNA, PCR-RFLP.
Highlights
DNA repair mechanisms have an essential role in genome stability
This study, was aimed to investigate whether xeroderma pigmentosum complementation group D (XPD) and x-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms were involved in the susceptibility to different hematological malignancies
In XRCC1-399, it was shown that Gln/Gln genotype was decreased significantly in acute myeloblastic leukemia (AML) (p = 0.014) plus all hematological malignancies (p = 0.033) and that Gln allele was present at a lower ratio in AML (p = 0.046)
Summary
DNA repair mechanisms have an essential role in genome stability. The polymorphisms in DNA repair genomes resulting from the interaction between gene and the environment increase the tendency of cells to cancer by affecting DNA repair mechanisms. It has been shown in literature that these polymorphisms play an important role in mismatch repair (MMR), DNA repair, nucleotide excision repair (NER) and base excision repair (BER) mechanisms in hematological malignancies Several polymorphisms have been identified in the XPD repair gene and the most important of these have been determined in codons 156, 312 and 751. These polymorphisms lead to changes at the amino acid level. The polymorphisms in XPD gene give information about the capacity of DNA repair and the risk of cancer. XPD repair gene polymorphisms have been examined especially in colorectal glands and cancers (Yeh et al, 2005; Skjelbred et al, 2006, Artac et al, 2010), breast cancers (Metsola et al, 2005; Shi et al, 2004; Chacko et al, 2005), pancreas cancers (Jiao et al, 2007), bladder cancers (Shen et al, 2003), lung cancers (Hou et al, 2002; Xing et al, 2002; Park et al, 2002 a, b; Gao et al, 2003; Liang et al, 2003; Sreeja et al, 2007), esophageal carcinomas (Yu et al, 2004) and hematological malignancies (Allan et al, 2004; Mehta et al, 2006; Monzo et al, 2006)
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