The CYP19A1 rs700519 Polymorphism and Breast Cancer Susceptibility in China: A Case–Control Study and Updated Meta-Analysis

Objective: Breast cancer (BC), the most prevalent cancer in women, has been with multiple genetic factors including the CYP19A1 rs700519 polymorphism; however, the conclusions have not been consistent. This case–control study and meta-analysis aimed to further assess the relationship between the CYP19A1 rs700519 polymorphism and BC susceptibility. Materials and Methods: We conducted a case–control study to assess the relationship of the CYP19A1 rs700519 polymorphism with the risk and prognosis of BC. Subsequently, we performed a meta-analysis of case–control studies. Results: In the case–control study, we found a significant negative relationship between the rs700519 AA genotype and risk (χ2 = 7.503, p < 0.01) and disease-free survival rates (hazard rate = 0.400, 95% confidence interval [CI] = 0.181–0.883, p < 0.01) of patients with cancer BC, especially in postmenopausal hormone receptor-positive (HR+) patients. Nine case–control studies were included in the meta-analysis. The CYP19A1 rs700519 polymorphism was significantly associated with BC susceptibility in the dominant (odds ratio [OR] = 0.95, 95% CI = 0.90–1.00, p = 0.05) and allelic models (OR = 0.84, 95% CI = 0.75–0.93, p < 0.01). Conclusions: The CYP19A1 rs700519 polymorphism is related to breast tumorigenesis.