Relationship Between Polymorphism Of BACH1 Gene And The Early-onset Breast Cancer In Xinjiang Women Of Uygur And Han Nationality

Objective:To investigate the association between single Nucleotide polymorphisms (SNPs) of BACH1 gene and the early-onset breast cancer in Uygur and han nationality women in Xinjiang.Methods:A case-control study,detecting BACH1 gene exon sites by DNA direct sequencing method,in each 80 early-onset breast cancer cases of Uygur and han nationality women (≤40 years),Screened out high frequency functional sites,With Snapshot genotyping technology detecting each 240 cases of Uygur and han nationality women (≤40 years) genotype of these sites,The relationship between genotype distribution and and risk of early-onset breast cancer in Uygur and han nationality women was analyzed by unconditional logistic regression model.Results:(1)Early age at menarehe and late age at first pregnancy of cancer may be important risk factors of early-onset breast cancer in Uygur women in Xinjiang,and positive family history of cancer may be important risk factor of early-onset breast cancer in han nationality women in Xinjiang.(2) In breast cancer and control groups of Han nationality women,The frequencies of genotypes of rs4986764 of BACH1 gene showed significant differences between breast cancer and control groups(P<0.05), CC and TC+CC dominant model of rs4986764 site significantly reduced the risk of breast cancer.In addition,the SNP-SNP interactions of dominance-genotypes(TC+CC,AG+GG) of rs4986764 and rs4986765 site increased 2-fold risk of breast cancer.(3)In breast cancer and control groups of Uygur women, The frequencies of genotypes of rs4986764、rs4986765 and MUTATION (c.587A>G) of BACHI gene showed differences between breast cancer and control groups(P<0.05),rs4986764 site of TC,CC and TC+CC dominant model significantly reduced the risk of breast cancer.rs4986765 site of GG,AG+GG dominant model and MUTATION (c.587A>G) site of GG,AG+GG dominant model 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 BACH1 gene is associated with significantly reduces risk of early-onset breast cancer in Uygur and Han nationality women in Xinjiang,SNP of rs4986765 is associated with significantly increases risk of breast cancer in Uygur women,SNP of MUTATION (c.587A>G) is associated with significantly increases risk of breast cancer in Uygur women.