Association between RECQL5 genetic polymorphisms and susceptibility to breast cancer.

Previous studies indicated that the RECQL5 gene polymorphism was associated with human cancers. However, the association of RECQL5 gene polymorphism with breast cancer remains unclear. In the present study, we investigated the association between polymorphisms of the RECQL gene and breast cancer in a Chinese population. We selected four polymorphisms of the RECQL5 gene (rs820186, rs820196, rs820200, and rs4789223) for the present study. The genotyping was performed using the TaqMan method in 510 patients with breast cancer and 510 age- and sex-matched non-cancer controls. We found that rs820196 and rs828200 polymorphisms of RECQL5 were associated with breast cancer. For rs820196, the CC genotype (16.7 vs 9.4 %, P < 0.001) and C allele (42.5 vs 34.3 %, P < 0.001) were common in the breast cancer patients than in the control subjects, respectively. For rs828200, the GG genotype (23.7 vs 18.0 %, P < 0.001) and G allele (52.7 vs 43.8 %, P < 0.001) were common in the breast cancer patients than in the control subjects, respectively. Haplotype analysis showed that C-G (odds ratio (OR) = 2.247, 95 % confidence interval (CI) 1.854∼2.722; P < 0.001) was associated with increased risk for breast cancer. However, the C-T (OR = 0.175, 95 % CI 0.110∼0.278; P < 0.001) and T-G (OR = 0.544; 95 % CI 0.428∼0.692; P < 0.001) were associated with decreased risk for breast cancer, respectively. The present study indicated that the RECQL5 genetic polymorphism and haplotypes were associated with breast cancer in a Chinese population.