The relationship between four GWAS-identified single nucleotide polymorphisms and female breast cancer in Henan population

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Objective To verify the association between common breast cancer susceptibility loci which have been confirmed in European and Asian populations and breast cancer susceptibility in sporadic breast cancer among the Han nationality in Henan province, and to analyze their genotypes in the internal type of breast cancer. Methods In 253 breast cancer patients(the case group)and 343 patients who had benign breast lesions(the control group), rs2046210(6q25.1), rs2981582(EGFR2), rs889312(MAP3K1), and rs3803662(TOX3/TNRC9)were genotyped by SNP im-LDR technique. According to estrogen receptor(ER), progesterone receptor(PR), human epidermal growth factor receptor 2(HER2)and Ki67, breast cancer are divided into 5 types: Luminal A, Luminal B, HER2-enrich, Luminal HER2, and triple negative breast cancer(TNBC). Results rs2046210(6q25.1), rs2981582(EGFR2), rs889312(MAP3K1)had no statistical differences between the case group and the control group(P=0.421, 0.459, and 0.468), but the genotype of rs3803662(TOX3/TNRC9)in the case group and the control group had statistical difference(P=0.037). The allelic frequencies of rs3803662 between the case group and control group were different in codominant inheritance(OR=2.19, 95% CI: 1.19-4.02)and recessive genetic models(OR=2.06, 95% CI: 1.15-3.70). Compared with AA and GA, GG increased the risk of breast cancer(P=0.012, 0.015). The genotypes of rs2046210(6q25.1), rs2981582(EGFR2), rs889312(MAP3K1), and rs3803662(TOX3/TNRC9)had no difference in different types of breast cancer. Conclusions Four common breast cancer susceptibility loci from GWAS are not entirely associated with breast cancer risk among the Han nationality in Henan province. Only rs3803662(TOX3/TNRC9)is confirmed to increase the risk of breast cancer. Different genotypes of 4 loci distribute equally in different types of breast cancer. Key words: Breast cancer; Types of breast cancer; Single nucleotide polymorphisms