[The clinical research of IFNGR1 proximal promoter polymorphism in susceptibility and prognosis of breast cancer].

Abstract

This study investigated the association between a proximal promoter polymorphism of IFNGR1 (interferon-γ receptor α chain, IFNGR-α) and breast cancer susceptibility, as well as the prognostic value of its expression variation in breast cancer patients. A case-control study was conducted at the Sixth Medical Center of PLA General Hospital from June 2020 to June 2022. The study included 182 pathologically confirmed breast cancer patients as the breast cancer group, 177 non-tumor patients with benign breast lesions as the benign breast lesions group, and 229 healthy individuals as the normal control group. 2-3 ml EDTA anticoagulant whole blood samples were collected from all participants, and genomic DNA was extracted and stored for further analysis. Basic patient information was retrieved from the hospital's electronic medical records by patients' ID number. The proximal promoter sequence of IFNGR1 was obtained from NCBI, and sequencing primers were designed using Primer Premier 6.0. Sanger sequencing was employed to analyze the IFNGR1 promoter sequence in the three groups, and the results were compared with the Eukaryotic Promoter Database (EPD) sequence using Bioedit software. Statistical analysis was performed on single nucleotide polymorphisms (SNPs) in the IFNGR1 promoter. The TCGA database was utilized to assess the relationship between IFNGR1 expression levels and breast cancer patient survival. The findings revealed that the -56 TG genotype of the IFNGR1 promoter was significantly associated with increased breast cancer risk (Z=2.73, P<0.05). Notably, IFNGR1 expression was lower in breast cancer group compared to normal control group (P<0.05). Analysis of the TCGA database indicated that patients with high IFNGR1 expression had longer survival times than those with low expression (HR=0.87, 95%CI:0.77-0.98,P<0.05). In summary, the IFNGR1 -56 TG genotype is associated with an increased risk of breast cancer, and there is a positive correlation between IFNGR1 expression levels and the survival of breast cancer patients.