Background: A growing body of evidence indicates that caveolin-1 (CAV1) may influence the development of human cancer. However, the exact role of CAV1 in childhood leukemia is still controversial. We investigated six novel polymorphic variants of CAV1, namely C521A (rs1997623), G14713A (rs3807987), G21985A (rs12672038), T28608A (rs3757733), T29107A (rs7804372), and G32124A (rs3807992), and analyzed the association of each specific genotype with susceptibility to childhood leukemia.
Materials and methods: In total, 266 patients with childhood leukemia and 266 age-matched healthy controls, recruited from two major medical centers in Taiwan, were genotyped investigating the association of these polymorphisms with childhood leukemia.
Results: We found that there were significant differences between childhood leukemia and control groups in the distributions of their genotypes (p=4.1×10(-8) and 0.0167) and allelic frequencies (p=4.9×10(-10) and 3.7×10(-3)) in the CAV1 G14713A and T29107A polymorphisms, respectively. As for the haplotype analysis, those who had GG/AT or GG/AA at CAV1 G14713A/T29107A had a reduced risk of childhood leukemia compared to those with GG/TT, while those with any other combinations were at increased risk.
Conclusion: The A allele of CAV1 G14713A is risky, while the A allele of CAV1 T29107A is protective for the development of childhood leukemia and these may be novel useful genomic markers for the early detection of childhood leukemia.