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Oxidative Medicine and Cellular Longevity
Volume 2017, Article ID 9478946, 6 pages
https://doi.org/10.1155/2017/9478946
Research Article

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

1Department of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University, Katerinska 32, 12000 Prague 2, Czech Republic
22nd Department of Internal Medicine and Department of Cardiovascular Medicine, 1st Faculty of Medicine, Charles University, Katerinska 32, 12000 Prague 2, Czech Republic
34th Department of Internal Medicine, 1st Faculty of Medicine, Charles University, Katerinska 32, 12000 Prague 2, Czech Republic

Correspondence should be addressed to Libor Vítek; zc.tensec@ketiv

Received 22 May 2017; Accepted 9 July 2017; Published 16 August 2017

Academic Editor: Ryuichi Morishita

Copyright © 2017 Alena Jirásková et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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 μmol/L, ) and also total antioxidant capacity (), which showed a close positive relationship with serum bilirubin levels () and the use of enzyme replacement therapy (). There was no association between HMOX1 gene promoter polymorphism and manifestation of FD. However, the presence of the TA7 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, ). 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.