Association of the Arg399Gln polymorphisms of the XRCC1 gene with breast cancer risk in Kyrgiz women

Abstract There were examined 219 women of Kyrgyz nationality (mean age 51 ± 9.7 years). 117 female with breast cancer (BC) and 102 apparently health controls. The diagnosis of breast cancer was confirmed histologically. DNA was prepared from whole blood samples. XRCC1 genotypes Arg399Gln were examined using polymerase chain reaction-restriction enzyme polymorphism (PCR-RFLP). The frequency of the variant 399Gln allele and heterozygous genotype Arg399Gln of the Arg399Gln polymorphism of the XRCC1 gene were significantly higher among women with breast cancer compared with control subjects (p < 0.05). The Arg399Gln polymorphism of the XRCC1 gene is associated with breast cancer risk in a Kyrgyz women when using additive model (χ² = 4,901; p = 0.0268) general model (χ² = 13,86; p = 0.0010) and dominant model of inheritance (χ² = 11.18; p = 0.0008). Women having the 399Gln allele had 1,57 fold (95% CI 1.7-2.30; p = 0.002) higher risk of developing BC compared with subjects carrying neither of these alleles. Individuals carrying the heterozygous genotype Arg399Gln had 2.77 fold (95% CI 1.6-4, p = 0.002) higher risk of BC. Thus, the heterozygous genotype Arg399Gln and 399Gln allele of XRCClgene are associated with an increased risk of breast cancer in Kyrgyz females.