Association of vitamin D receptor expression and gene polymorphism with tumor burden in neurofibromatosis type 1
Final Report Abstract
The most interesting and important finding of the study is the significant inversed correlation between the number of neurofibromas and the expression level of the vitamin D receptor gene. In other words, we observed a trend that the more the vitamin D receptor, the less tumor development in the clinical setting of neurofibromatosis type 1. Our previous studies readily showed that high serum 25(OH) D level is correlated with the less tumors in these patients. We also confirmed this correlation in the present study. Furthermore, we found a trend of inversed correlation between serum 25(OH)D level and the vitamin D receptor expression when the patients were stratified according to their tumor loads. This finding indicates that vitamin D level may have a compensating effect for lower vitamin D receptor expression or vice versa regarding their tumor‐suppressing effects. By contrast, no effect of neither vitamin D level nor the expression of the receptor gene was seen on size of another NF1‐associated tumor, plexiform neurofibroma. The findings indicate that vitamin D and its receptor may play a role in tumor initiation, but unlikely in tumor growth. Extrapolating these findings to general population, we may hypothesize that vitamin D receptor potentially play a positive role in cancer prevention and its lower expression in some individuals may be compensated by sustaining vitamin D at proper level.
