Backgrounds & Aims: X-ray repair cross-complementing group 1 (XRCC1) plays an important role in base excision repair (BER) system, which is critical for genome maintenance. Polymorphisms in XRCC1 that result alteration of DNA repair capacity are reportedly associated with cancer risk and treatment response. However, whether these polymorphisms alter the susceptibility and clinical outcomes of patients with myelodysplastic syndromes (MDS) is unknown. The aim of this study was to evaluate the association of two polymorphisms, XRCC1 Arg194Trp and XRCC1 Arg399Gln, with susceptibility to and clinical outcome of MDS.
Methods: Our study included 119 patients with MDS or chronic myelomonocytic leukemia[median 67.9 years, range 17.1-86.5 years; male/female 81/38]and 202 healthy control subjects. Genotypes were determined via PCR-restriction fragment length polymorphism (PCR-RFLP).
Results: Differences in allele or genotype frequencies for XRCC1 Arg194Trp or XRCC1 Arg399Gln between patients with MDS and the control group were not significant. However, XRCC1 399 non-Arg/Arg genotypes were significantly associated with previous history of radiotherapy and multiple cancers. Furthermore, XRCC1 194 non-Arg/Arg genotypes and XRCC1 399 Arg/Arg genotype were each significantly associated with poor prognosis for patients with MDS.
Conclusions: Our studies suggest that XRCC1 polymorphisms affected clinical features of MDS and may be useful prognostic marker for MDS.