BACKGROUND: This study aimed to evaluate the association of CD44 gene single-nucleotide polymorphisms with susceptibility to breast cancer.

MATERIAL AND METHODS: This case-control study included 242 breast cancer patients and 252 normal people without disease. The single-nucleotide polymorphisms of the CD44 gene in the 2 groups were genotyped by PCR-LDR method. The OR and its 95% CI was calculated by chi-square test and logistic regression analysis. The construction of haplotypes and their interaction analysis with relevant factors were carried out by SHEsis and SNPStats online.

RESULTS: The genotype distribution of CC and CT, CC and CC+CT, and CC+CT and TT in rs13347 showed a significant difference between cases and controls, and the difference in distribution of alleles C and T was statistically significant. The genotype and alleles distribution of rs4756195 and rs8193 showed no statistically significant difference (P>0.05). The haplotypes distribution of CAC, CGT, TAC, and TGT showed a significant difference between the 2 groups (P<0.05). The results of analysis of haplotypes and their interactions with relevant factors showed that breast cancer risk in the PR-negative group was significantly higher than that in the PR-positive group (P=0.016). We found an interaction between haplotypes and PR status.

CONCLUSIONS: The genotypes CT, CT+TT, TT, and allele T in rs13347 may be risk factors for breast cancer. The haplotype CAC may be a protective factor against breast cancer, and CGT, TAC, and TGT may be risk factors for breast cancer. The PR status interacts with CD44 gene SNP.

Keywords: Antigens, CD44, Polymorphism, Single Nucleotide, Triple Negative Breast Neoplasms