Our results indicated a boardline connection between HIF-1 rs11549467 and BC risk (AG compared with GG: OR = 1.61, 95% CI = 1.05-2.49, <i>P</i>=0.03; AG + AA compared with GG: OR = 1.64, 95% CI = 1.08-2.51, <i>P</i>=0.02; AG compared with GG + AA: OR = 1.61, 95% CI = 1.04-2.48, <i>P</i>=0.03; OR = 1.64, 95% CI = 1.09-2.45, <i>P</i>=0.02), while HIF-2 rs17039192 had no influence on breast cancer.
There were no significant differences in genotypic frequencies for P582S and A588T between breast cancer patients and controls, nor between the transcriptional activity of the 582S mutant and the wild-type HIF-1α.
These results suggest the potential use of C1772T (P582S) polymorphism and expression analysis in providing a new prognostic factor for unfavorable disease outcomes and may help for clinical decision-making in the treatment of breast cancer patients.
Subtype analysis performed for patient subgroups defined by ER, PR, and HER2 status suggested additional associations of the <i>NOTCH3</i> SNP rs200504060 and the <i>HIF1A</i> SNP rs142179458 with breast cancer risk.