Serum Bilirubin Levels and Promoter Variations in HMOX1 and UGT1A1 Genes in Patients with Fabry Disease
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10364327" target="_blank" >RIV/00216208:11110/17:10364327 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/17:10364327
Result on the web
<a href="http://dx.doi.org/10.1155/2017/9478946" target="_blank" >http://dx.doi.org/10.1155/2017/9478946</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1155/2017/9478946" target="_blank" >10.1155/2017/9478946</a>
Alternative languages
Result language
angličtina
Original language name
Serum Bilirubin Levels and Promoter Variations in HMOX1 and UGT1A1 Genes in Patients with Fabry Disease
Original language description
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 mu 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 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, 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Oxidative Medicine and Cellular Longevity
ISSN
1942-0900
e-ISSN
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Volume of the periodical
Neuveden
Issue of the periodical within the volume
August
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
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UT code for WoS article
000407894900001
EID of the result in the Scopus database
2-s2.0-85028637388