Association between the Cx371019 C > T genetic variant and risk of breast cancer

Abstract Gap junctions (GJs) are intercellular channels consisting of connexin proteins that allow the communication/cross-talk of molecules between neighboring cells. Connexins play an important role in various cellular processes including proliferation, cell signaling, homeostasis, differentiation, invasion, and metastasis. Connexins are involved in the development of several cancers that include breast cancer (BC). There is evidence that genetic variations of the GJs gene that encode connexin 37 (Cx37), are associated with susceptibility to several malignancies. Here we aimed to investigate the relationship between the Cx37 1019 C > T polymorphism, and the risk of BC. One hundred and fifty-seven women were recruited and genotyping was conducted using a Taqman® based assay. The frequency of the minor allele was 0.4. The Cx37 1019 C > T polymorphism was associated with an increased risk of BC (e.g., recessive model (TT + TC vs. CC), OR = 3.37, 95%CI = 1.51–7.49, P = 0.003; co-dominant model (TC vs. TT + CC), OR = 3.10, 95%CI = 1.57–6.13, P = 0.001). Further studies in more diverse populations are required to determine the value of the emerging marker as a risk stratification biomarker for breast cancer.