Background: The objective of this study was to investigate whether the genetic polymorphism rs12665607 of ESR1, rs10995190 of ZNF365, rs3817198 of LSP1 and rs17001868 of SGSM3/MKL1 are associated with the development of breast cancer (BC) in the Chinese women.
Methods: The 4 SNPs were genotyped for 453 female BC patients and 750 controls. The differences of genotype and allele distributions between patients and controls were evaluated using the Chi-square test. The comparison of SGSM3 expression in the tumor and the adjacent normal breast tissues was carried out by the Student's t test. One-way ANOVA test was used to analyze the relationship between genotypes of rs17001868 and the tissue expression of SGSM3.
Results: Patients were found to have significantly higher allele T of rs12665607 and allele C of rs17001868 than that of the controls (35.2 % vs. 29.6 %, p = 0.004 for rs12665607; 23.1 % vs. 19.1 %, p = 0.02 for rs17001868). The OR values were 1.29 for rs12665607 and 1.27 for rs17001868, respectively. The mean expression level of SGSM3 was significantly lower in BC tumors than in the adjacent normal tissues (0.0082 ± 0.0038 vs. 0.0134 ± 0.0078; p < 0.001). Patients with genotype CC were found to have a remarkably lower SGSM3 expression in the tumors than those with genotype AA (p = 0.007).
Conclusions: ESR1 gene and the SGSM3 gene are associated with the risk of BC in Chinese population. Besides, rs17001868 may be a putative functional variant that can affect the expression of SGSM3 in patients with BC. With the OR ranging from 1.27 to 1.29, variants of these 2 genes can only explain limited variance of BC. Further investigations into the functional role of the susceptible genes would be helpful to clarify the etiology of BC.
Keywords: Breast cancer; Chinese population; Polymorphism; SGSM3; Susceptibility.