Association study between polymorphism of breast cancer susceptibility gene 1 interacting protein C-terminal helicase 1 and early-onset breast cancer in Xinjiang women of Uygur

Abstract

Objective To investigate the association between single Nucleotide polymorphisms (SNPs) of breast cancer susceptibility gene 1 interacting protein C-terminal helicase 1 (BACH1) gene and susceptibility of early-onset breast cancer in Uygur women in Xinjiang. Methods Detecting and analyzing BACH1 gene exon sites by DNA direct sequencing method and Snapshot genotyping technology, in 80 early-onset breast cancer cases and 240 cases of Uygur women (≤40 years). Results In breast cancer and control groups of Uygur women, the frequencies of genotypes of rs4986764、rs4986765 and c. 587A>G of BACHI gene showed differences between breast cancer and control groups (P=0.001, P=0.011, P=0.049), rs4986764 site of TC (OR=0.086), CC (OR=0.044)and TC+ CCdominant model (OR=0.058) significantly reduced the risk of breast cancer. rs4986765 site of GG (OR=5.617), AG+ GG dominant model (OR=4.254) and c. 587A>G site of GG (OR=7.590), AG+ GG dominant model (OR=7.590) significantly increased the risk of breast cancer. In addition, the SNP-SNP interactions of dominance-genotypes (TC+ CC, AG+ GG) reduced 0.4% risk of breast cancer. Conclusion SNP of rs4986764 of BACHl gene was associated with significantly reduces risk of early-onset breast cancer in Xinjiang women of Uygur, SNP of rs4986765 and c. 587A>G were associated with significantly increases risk of breast cancer in Uygur women. Key words: Breast cancer susceptibility gene 1 interacting protein C-terminal helicase 1 gene; Single nucleotide polymorphism; Uygur; Breast cancer