Aim: Japanese and American groups reported that single nucleotide variation of caveolin-1 gene (CAV1) plays an important role in breast cancer risk. The aim of this study was to evaluate the association of six polymorphic genotypes of CAV1, which is reported to be overexpressed in tumors, with breast cancer within a Taiwanese population.
Patients and methods: A total of 1232 patients with breast cancer and equal number of healthy controls in central Taiwan were genotyped via polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) and six polymorphic variants of CAV1 were analyzed for their association with breast cancer susceptibility.
Results: The distribution of genotypes of CAV1 G14713A and T29107A were significantly different between breast cancer and control groups (p=5.6×10(-5) and 1.9×10(-4), respectively), while those for CAV1 C239A, G21985A, T28608A and G32124A were not significant (p>0.05). The percentages of AG genotype of G14713A and TT genotype of T29107A are higher in the cancer group than in the control group. The two single nucleotide polymorphisms were chosen for haplotype analysis and the data showed that compared with GG/TT haplotype of CAV1 G14713A/T29107A, the GG/AT and GG/AA groups have a lower risk of breast cancer (odds ratio, OR=0.69, 95% confidence interval, CI=0.57-0.92). On the contrary, the AG/TT haplotype confers a higher risk of breast cancer (OR=1.50, 95% CI=1.14-2.12).
Conclusion: Our results provide evidence for CAV1 genotypes being involved in predisposition to breast cancer. The association of the potential risk haplotype agrees well with a role of CAV1 genotype in breast cancer risk and the association with tumor progression needs further investigation.