Background: An increased risk has been reported in Gaucher disease genotype N370S/N370S for multiple myeloma, hematologic and other malignancies, as well as skeletal involvement. The purpose of this study is to ascertain whether VDR genotype which is involved in the risk for many cancers including multiple myeloma is also correlated with cancers in patients with Gaucher disease.
Methods: VDR polymorphisms (ApaI, TaqI, BsmI, FokI) were analyzed by standard methods from 29 Gaucher patients (some on enzyme therapy) with various cancers and from 70 healthy Ashkenazi Jews. Associations between VDR and categorical variables were analyzed by chi-square and Fisher's exact tests; associations with quantitative variables used ANOVA and Scheffe post-hoc tests. Non-parametric Kruskal-Wallis ANOVA was used when one category was small. IRB Committee approval was received for this study.
Findings: There was a trend for statistical significance (p=0.04) between patients and controls for the ApaI aa genotype. There were no correlations between VDR polymorphic genotypes and disease severity, need for ERT, splenectomy, or bone disease except a trend associating TaqI TT genotype with Zimran's severity score (p=0.06).
Conclusion: This survey highlights the possibility that Gaucher disease in itself may not be the only important risk factor for cancers (other than multiple myeloma) and that other modifiers may affect cancer morbidity in Gaucher disease.
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