Frequency of the UGT1A1*28 polymorphism in a Romanian cohort of Gilbert syndrome individuals

Rădoi, Viorica; Ursu, Radu; Poenaru, Elena; Arsene, C; Bohiltea, Camil L; Bohîlțea, Roxana Elena

doi:10.15403/jgld.2014.1121.261.ugt

Cited by 10 publications

(2 citation statements)

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“…For the Romanian cohort of GS individuals, the results showed that the 7/7 TA promoter genotype was identified in 32.33% of all subjects, the 6/7 TA promoter genotype was the most prevalent (57.64%) and the 6/6 TA promoter genotype was detected in 7.36% of the GS patients [ 25 ]. Another study reported that the prevalence of the UGT1A1 *28 allele in Valencia reached 87.6% in the patients referred for GS [ 26 ].…”

Section: Discussionmentioning

confidence: 99%

UGT1A1 (TA)_n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

Vukovic

Radlovic

Lekovic

et al. 2018

Balkan Journal of Medical Genetics

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The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyperbilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the UGT1A1 gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA repeats contribute to normal UGT1A1 activity and non-risk GS allele. Also, the UGT1A1 (TA)n promoter genotype is recognized as a clinically relevant pharmacogenetic marker. The aim of this study was to assess diagnostic value of UGT1A1 (TA)n promoter genotyping in pediatric GS patients. Correlation of the UGT1A1 (TA)n genotypes and level of unconjugated bilirubin at diagnosis and after hypocaloric and phenobarbitone tests in these patients was analyzed. Another aim of the study was to assess pharmacogenetic potential of UGT1A1 (TA)n variants in Serbia. Fifty-one pediatric GS patients and 100 healthy individuals were genotyped using different methodologies, polymerase chain reaction (PCR) followed by acrylamide electrophoresis, fragment length analysis and/or DNA sequencing. Concordance of the UGT1A1 (TA)n promoter risk GS genotypes with GS was found in 80.0% of patients. Therefore, UGT1A1 (TA)n promoter genotyping is not a reliable genetic test for GS, but it is useful for differential diagnosis of diseases associated with hyperbilirubinemia. Level of bilirubin in pediatric GS patients at diagnosis was UGT1A1 (TA)n promoter genotype-dependent. We found that the frequency of pharmacogenetic relevant UGT1A1 (TA)n promoter genotypes was 63.0%, pointing out that UGT1A1 (TA)n promoter genotyping could be recommended for preemptive pharmacogenetic testing in Serbia.

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Section: Discussionmentioning

confidence: 99%

UGT1A1 (TA)_n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

Vukovic

Radlovic

Lekovic

et al. 2018

Balkan Journal of Medical Genetics

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“…The normal sequence of TATA box is A(TA) 6 TAA, and the most common variation involves the insertion of an extra TA sequence into the TATA box, creating A(TA) 7 TAA. The more TA repeat sequences there are, the lower the transcriptional activity of UGT1A1 becomes ( 23 ). However, the relationship between the genetic polymorphism of different loci and the incidence of NHB in different ethnic groups is still controversial, especially the variation of the promoter TATA box.…”

Section: Introductionmentioning

confidence: 99%

Developing and evaluating a predictive model for neonatal hyperbilirubinemia based on UGT1A1 gene polymorphism and clinical risk factors

Cui,

Shen,

Sun

et al. 2024

Front. Pediatr.

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BackgroundNeonatal hyperbilirubinemia (NHB) is one of the most common diseases in the neonatal period. Without timely diagnosis and treatment, it can lead to long-term complications. In severe cases, it may even result in fatality. The UGT1A1 gene and clinical risk factors play important roles in the development and progression of NHB.MethodsIn this study, we conducted a cohort study and analyzed 3258 newborns from the Jilin Women And Children Health Hospital in northern China, including 372 children with hyperbilirubinemia. We established a predictive model using a logistic regression model based on clinical risk factors and the polymorphism of the G211A locus in the UGT1A1 gene of newborns. Furthermore, the performance of the prediction model was evaluated using the ROC curve.ResultsThe logistic regression model indicates that the following factors are associated with an increased risk of NHB: the time when stool turns yellow [P ≤ 0.001, OR 1.266 (95% CI: 1.125-1.425)]; neonatal cephalohematoma [P ≤ 0.001, OR 33.642 (95% CI: 21.823-51.861)]; hemolytic disease of newborn [P ≤ 0.001, OR 33.849 (95% CI: 18.589-61.636)]; neonatal weight loss [P ≤ 0.001, OR 11.275 (95% CI: 7.842-16.209)]; neonatal premature rupture of membranes (PROM) history [P = 0.021, OR 1.422 (95% CI: 1.056-1.917)]; genetic polymorphism at the UGT1A1 gene G211A locus. Gestational age is a protective factor [P ≤ 0.001, OR 0.766 (95% CI: 0.686-0.855)]. Compared to natural labor, cesarean section is a protective factor [P = 0.011, OR 0.711 (95% CI: 0.546-0.926)], while assisted delivery is a risk factor [P = 0.022, OR 2.207 (95% CI: 1.121-4.346)]. The area under the curve (AUC) of this prediction model is 0.804 (95% CI: 0.777-0.831), indicating good discrimination ability and value for predicting the risk of NHB after birth.ConclusionWe have developed and evaluated a predictive model that combines UGT1A1 gene polymorphism and clinical risk factors for the first time. By using this nomogram and taking into account the results of serum total bilirubin measurement or transcutaneous bilirubin measurement, early prediction of the risk of neonatal hyperbilirubinemia can be achieved.

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Correlation between UGT1A1 polymorphism and neonatal hyperbilirubinemia of neonates in Wuhan

et al. 2017

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This study attempts to discuss the correlation between UGT1A1*28 as uridine diphosphate glucuronosyltransferase gene promoter and coding region Gly71Arg gene polymorphism with neonatal hyperbilirubinemia of neonates in Wuhan. A total of 168 neonates were divided into the hyperbilirubinemia group (case group, n=108) and healthy neonates group (control group, n=60). Their DNA was obtained through blood extraction. The gene exon mutation of UGT1A1 was detected by Sanger sequencing, which revealed the relationship between UGT1A1*28 and Gly71Arg polymorphism with neonatal hyperbilirubinemia of neonates. The results showed that: (1) The frequency of UGT1A1*28 allele mutation in the case group and the control group was 9.3% and 10% respectively, with the difference being not significant between the two groups (P>0.05). (2) The frequency of Gly71Arg allele mutation in the case group and the control group was 35.1% and 21.7% respectively, with the difference being significant between the two groups (P<0.01). (3) The serum bilirubin level of Gly71Arg mutant homozygous and heterozygous subgroups (n=66) in the case group was 302.7±31.4 μmol/L, which was significantly higher than 267.3±28.5 μmol/L of the wild subgroup (n=42) (P<0.01). It was suggested that the occurrence of neonatal hyperbilirubinemia of neonates in Wuhan was not associated with UGT1A1*28 gene polymorphism, but closely with the Gly71Arg gene polymorphism. Meanwhile, the Arg allele mutation was related to the degree of jaundice.

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Frequency of the UGT1A1*28 polymorphism in a Romanian cohort of Gilbert syndrome individuals

Cited by 10 publications

References 12 publications

UGT1A1 (TA)_n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

UGT1A1 (TA)_n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

Developing and evaluating a predictive model for neonatal hyperbilirubinemia based on UGT1A1 gene polymorphism and clinical risk factors

Correlation between UGT1A1 polymorphism and neonatal hyperbilirubinemia of neonates in Wuhan

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Frequency of the UGT1A1*28 polymorphism in a Romanian cohort of Gilbert syndrome individuals

Cited by 10 publications

References 12 publications

UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

Developing and evaluating a predictive model for neonatal hyperbilirubinemia based on UGT1A1 gene polymorphism and clinical risk factors

Correlation between UGT1A1 polymorphism and neonatal hyperbilirubinemia of neonates in Wuhan

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UGT1A1 (TA)_n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

UGT1A1 (TA)_n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia