Abstract

BackgroundThe X-ray repair cross complementing group 5 (XRCC5) gene that contains a variable number tandem repeat (VNTR) insertion in its promoter region encodes Ku80. It plays an important role in DNA double-strand break as part of the non-homologous end joining (NHEJ) pathway. This polymorphism is associated with the risk of numerous cancers. Therefore, the present study was investigated the association between the VNTR genetic polymorphism of XRCC5 and risk of acute lymphoblastic leukemia (ALL). Methods and resultsWe analyzed VNTR polymorphism of XRCC5 gene in 100 ALL cases and 200 controls by polymerase chain reaction. Controls had no history of ALL, and they matched by age with cases. The genotypes were determined by using PCR-based methods. Our results showed that for the VNTR XRCC5 polymorphism the 1R/2R genotype and 0R/2R significantly increased the risk of ALL cancer (OR 2.52, 95% CI 1.385–4.588, P = 0.002; OR 4.333, 95% CI 0.914–20.533, P = 0.025) in comparison with the 1R/1R genotype, respectively. The 0R/3R genotype decreased the risk of ALL cancer compared with 1R/1R genotype (Fisher's test P = 0.002). ConclusionsConsequently, the VNTR polymorphism in the promoter region of XRCC5 gene might be risk factor for ALL development.

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