Genotypic frequency of Caveolin-1 (CAV1) T29107A polymorphism in the Iranian patients with breast cancer

Introduction: Caveolin-1 (Cav-1) is a scaffolding protein found in special structures of plasma membrane, known as Caveolae. Cav-1 can regulate many intracellular processes, including signal transmission and cholesterol metabolism. This protein plays an important role in the growth and differentiation of breast tissue and acts as a tumor suppressor gene as well. The aim of this study was to determine the genotypic frequency of Cav-1 T29107A (rs7804372) polymorphism and its association with susceptibility to breast cancer among the female population in Kermanshah, Iran.

Methods: A total of 120 patients with breast cancer and an equal number of non-cancer individuals (control group), matched for age and gender with the patients, were selected in this study. The paraffin tissues of the patients from 2006 to 2013 were collected from Imam Reza hospital, Kermanshah, and 2.5 cc blood sample was taken from non-cancer individuals. The genomic DNA was extracted from paraffin tissues and blood by salting out method. The genotype of samples was determined by RFLP-PCR method, and Sau3A1 enzyme was used for RFLP analysis.

Results: The distribution of Cav-1 T29107A genotype was found to be significantly different between breast cancer patients and control group (p=0.004). Among the patients, 84 (70%) samples had genotype TT, 29 (24.78%) genotype AT and 7 (5.83%) genotype AA. As for the control group, however, 59 (49.17%) samples had genotype TT, 49 (40.83%) genotype AT and 12 (10%) genotype AA.   

Conclusion: The results of this study showed that genotype TT is associated with an increased risk of susceptibility to breast cancer.