Simultaneous genotyping of microsatellite variations in HMOX1 and UGT1A1 genes using multicolored capillary electrophoresis

Jirásková, Alena; Leníček, Martin; Vı́tek, Libor

doi:10.1016/j.clinbiochem.2010.01.006

Cited by 12 publications

(11 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The UGT1A1 gene promoter variants were analysed by multicoloured capillary electrophoresis as previously described, with some slight modification (for primer sequences, see Additional file 1 : Table S1) [30] . The number of (TA) repetitions in the UGT1A1 gene promoter (dbSNP rs81753472) was determined by fragment analysis performed by SEQme (Dobris, Czech Republic).…”

Section: Methodsmentioning

confidence: 99%

Serum Bilirubin Concentrations and the Prevalence of Gilbert Syndrome in Elite Athletes

et al. 2022

View full text Add to dashboard Cite

Objectives Bilirubin is a potent endogenous antioxidant and immunomodulating substance, which is also implicated in both cell signalling and various metabolic pathways. Mild elevation of systemic bilirubin concentrations provides substantial protection against many diseases of civilization. Rare published reports have suggested that serum bilirubin might also be relevant to sports performance. The purpose of the current study was to evaluate serum bilirubin concentrations and the prevalence of Gilbert syndrome (GS) in elite athletes. Methods The study was carried out in 536 consecutive healthy elite athletes and in 2594 individuals of the Czech post-MONICA study representing the general Czech population. Serum bilirubin concentrations, the prevalence of benign hyperbilirubinemia > 17 µmol/L (1 mg/dL, a phenotypic sign of GS), and a variant of the UGT1A1 gene promoter responsible for GS manifestation in Caucasians (rs81753472) were evaluated in study subjects. Results Compared to the general Czech population, significantly higher serum bilirubin concentrations were found in elite athletes (9.6 vs. 11.6 µmol/L, p < 0.001), both in men (11.3 vs. 12.6 µmol/L, p < 0.001) and women (8.3 vs. 10.5 µmol/L, p < 0.001). Furthermore, the prevalence of GS was also significantly higher in elite athletes (9.6 vs. 22%, p < 0.001) together with the tendency to higher frequencies of the genotypes (TA)7/7 and (TA)6/7UGT1A1. Conclusion Elite athletes have significantly higher concentrations of serum bilirubin, the most potent endogenous antioxidant substance known. Simultaneously, the prevalence of GS syndrome is also much higher in elite athletes, suggesting that a mild elevation of serum bilirubin might predispose to better sports performance.

show abstract

Section: Methodsmentioning

confidence: 99%

Serum Bilirubin Concentrations and the Prevalence of Gilbert Syndrome in Elite Athletes

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Genomic DNA was isolated from peripheral blood white cells by a standard salting-out method. The (GT)n variations in the HMOX1 (dbSNP rs1805173), and (TA)n variations in the UGT1A1 (dbSNP rs81753472) gene promoters were simultaneously determined using multicolored capillary electrophoresis as previously described [ 28 ]. Corresponding DNA fragments were amplified by polymerase chain reaction (PCR) using the following primers: (for HMOX1 : forward 5′-CTGCAGCTTCTCAGATTTCC-3′; reverse 5′-ACAAAGTCTGGCCATAGGAC; for UGT1A1 : forward 5′-GAACTTGGTGTATCGATTGGTTTTGC-3′; reverse 5′-CATCCACTGGGATCAACAGTATCTTCC-3′).…”

Section: Methodsmentioning

confidence: 99%

Association of Serum Bilirubin and Functional Variants of Heme Oxygenase 1 and Bilirubin UDP-Glucuronosyl Transferase Genes in Czech Adult Patients with Non-Alcoholic Fatty Liver Disease

et al. 2021

View full text Add to dashboard Cite

Non-alcoholic fatty liver disease (NAFLD) is the most prevalent chronic liver disorder worldwide. The aim of our study was to assess the role of bilirubin, and the heme oxygenase 1 (HMOX1) and bilirubin UDP-glucuronosyl transferase (UGT1A1) promoter gene variants, which are involved in bilirubin homeostasis, in the NAFLD development in adult patients. The study was performed on 84 patients with NAFLD and 103 age/sex-matched controls. Routine biochemistry, inflammatory markers, adipokines, and the fibrosis/steatohepatitis stage were determined in the NAFLD patients. The (GT)n/(TA)n dinucleotide variations in HMOX1/UGT1A1 gene promoters, respectively, were analyzed by fragment analysis. Compared to controls, serum bilirubin concentrations in NAFLD patients tended to be decreased, while the prevalence of phenotypic Gilbert syndrome was significantly low. Genetic variations in HMOX1 and UGT1A1 gene promoters did not differ between NAFLD patients and controls, and no relationship was found in the NAFLD patients between these gene variants and any of the laboratory or histological parameters. In conclusion, metabolism of bilirubin is dysregulated in NAFLD patients, most likely due to increased oxidative stress, since frequencies of the major functional variants in the HMOX1 or UGT1A1 gene promoters did not have any effect on development of NAFLD in adult patients.

show abstract

“…The (GT) n (dbSNP rs1805173) and (TA) n (dbSNP rs81753472) dinucleotide variations in HMOX1 and UGT1A1 gene promoters, respectively, were determined by fragment analysis using an automated capillary DNA sequencer, as previously described [ 27 ]. The length variations of HMOX1 (GT) n repeats were classified into short S ( n < 27), medium M ( n = 27–32), and long L ( n ≥ 33) subgroups.…”

Section: Methodsmentioning

confidence: 99%

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

Jirásková

Bortolussi

Dostálová

et al. 2017

Oxidative Medicine and Cellular Longevity

View full text Add to dashboard Cite

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, 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.

show abstract

Simultaneous genotyping of microsatellite variations in HMOX1 and UGT1A1 genes using multicolored capillary electrophoresis

Cited by 12 publications

References 6 publications

Serum Bilirubin Concentrations and the Prevalence of Gilbert Syndrome in Elite Athletes

Serum Bilirubin Concentrations and the Prevalence of Gilbert Syndrome in Elite Athletes

Association of Serum Bilirubin and Functional Variants of Heme Oxygenase 1 and Bilirubin UDP-Glucuronosyl Transferase Genes in Czech Adult Patients with Non-Alcoholic Fatty Liver Disease

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

Contact Info

Product

Resources

About