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The aim of our study was to assess the possible relationships among heme oxygenase (HMOX), bilirubin UDP-glucuronosyl transferase (UGT1A1) promoter gene variations, serum bilirubin levels, and Fabry disease (FD). The study included 56 patients with FD (M : F ratio = 0.65) and 185 healthy individuals. Complete standard laboratory and clinical work-up was performed on all subjects, together with the determination of total peroxyl radical-scavenging capacity. The (GT)n and (TA)n dinucleotide variations in the  HMOX1  and  UGT1A1  gene promoters, respectively, were determined by DNA fragment analysis. Compared to controls, patients with FD had substantially lower serum bilirubin levels (12.0 versus 8.85  μ mol/L,  p  = 0.003) and also total antioxidant capacity ( p  < 0.05), which showed a close positive relationship with serum bilirubin levels ( p  = 0.067) and the use of enzyme replacement therapy ( p  = 0.036). There was no association between  HMOX1  gene promoter polymorphism and manifestation of FD. However, the presence of the TA 7  allele  UGT1A1  gene promoter, responsible for higher systemic bilirubin levels, was associated with a twofold lower risk of manifestation of FD (OR = 0.51, 95% CI = 0.27–0.97,  p  = 0.038). Markedly lower serum bilirubin levels in FD patients seem to be due to bilirubin consumption during increased oxidative stress, although  UGT1A1  promoter gene polymorphism may modify the manifestation of FD as well.

Serum Bilirubin Levels and Promoter Variations in HMOX1 and UGT1A1 Genes in Patients with Fabry Disease