The Association between Prolonged  Jaundice and UGT1A1 Gene Polymorphism  (G71R) in Gilbert's Syndrome

Alaee, Ehsan; Bazrafshan, Behnaz; Azaminejad, Ali Reza; Fouladinejad, Mahnaz; Shahbazi, Majid

doi:10.7860/jcdr/2016/19004.8810

Cited by 6 publications

(3 citation statements)

References 24 publications

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“…The incidence of c.211G > A (UGT1A1*6) in East Asia including China, Japan, and Korea, is high (16%-21%) (1,2). The role of c.211G > A in prolonged jaundice was found in Japan and Iran (3,4). Studies on the effects of c.211G > A on infants suffering from prolonged jaundice, especially severe prolonged jaundice, are limited in China.…”

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UGT1A1*6 mutation associated with the occurrence and severity in infants with prolonged jaundice

Yang

Lin

et al. 2022

Front. Pediatr.

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BackgroundThis study aimed to investigate the influence of a variant of the UGT1A1 gene on the occurrence and severity of prolonged jaundice in Chinese infants at term.Methods175 infants with prolonged jaundice and 149 controls were used in this retrospective case-control study. The infants with prolonged jaundice were subdivided into the mild-medium and severe jaundice groups (TSB ≥ 342 µmol/L). The frequency and genotype distribution of the UGT1A1 and G6PD genes, and clinical parameters including sex, birth weight, delivery mode, gestational age, and feeding mode, were analyzed, and the differences in the parameters between the two groups were compared.ResultsThe allele frequency of UGT1A1*6 in the prolonged jaundice group was higher than that in the control group. Similarly, it was also higher in the severe jaundice group than in the mild-medium jaundice group. Homozygous and heterozygous UGT1A1*6 were also found more frequently in the prolonged jaundice group than in the control group. Exclusive breastfeeding, homozygous and heterozygous forms of UGT1A1*6 were significant risk indicators for prolonged jaundice. Moreover, UGT1A1*6 was the best predictor of prolonged severe jaundice.ConclusionUGT1A1*6 appears to be a risk factor for prolonged jaundice with hyperbilirubinemia in term infants of Chinese ancestry who are exclusively breastfed.

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UGT1A1*6 mutation associated with the occurrence and severity in infants with prolonged jaundice

Yang

Lin

et al. 2022

Front. Pediatr.

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“…Yang et al 40) also reported that 58.9% of Chinese patients with prolonged jaundice harbored the c.211G>A variant of UGT1A1, which was significantly higher than that in the control group. Alaee et al 41) reported no significant association between prolonged Iranian neonatal jaundice and UGT1A1 G71R polymorphism. Therefore, more studies with a larger number of participants are needed to reveal the prevalence of UGT1A1 mutations in infants with prolonged jaundice.…”

Section: Effects Of Ugt1a1 Genotypes On Clinical and Laboratory Param...mentioning

confidence: 97%

Should We Consider UGT1A1 Mutation Analysis in Evaluating the Prolonged Jaundice of Newborn Infants?

Kim

2024

Neonatal Med

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Purpose: Uridine diphosphate glucuronosyltransferase 1A isoform 1 (UGT1A1) is a crucial enzyme in bilirubin metabolism. Mutations in this gene cause prolonged unconjugated hyperbilirubinemia in infants. This study aimed to investigate the prevalence of UGT1A1 mutations and their association with prolonged, unexplained, and unconjugated hyperbilirubinemia in infants.Methods: From July 2019 to March 2023, 74 infants with prolonged jaundice lasting >21 days were enrolled in this study. Diagnostic evaluations, including UGT1A1 mutation analysis, were performed to identify the underlying causes of hyperbilirubinemia. This retrospective review evaluated the incidence and types of mutations in UGT1A1. The clinical and laboratory findings were compared based on the specific mutations detected.Results: Thirty-three infants agreed to UGT1A1 mutation analysis, and 30 (90.9%) were positive for UGT1A1 mutations. Single-nucleotide variants were detected in 20 (66. %) infants. The remaining 10 (33.3%) infants had multiple variants. No significant demographic differences were observed between the group that underwent UGT1A1 mutation analysis and the group that did not. Among the identified genetic variants, c.211G>A (46.5%) and c.-3275T>G (30.2%) were the two most common variants. The other variants had the following percentages: c.1456T>G, c.-64G>C, and c.1091C>T (4.7% each); and c.-3152G>A, c.189C>T, and c.-41.-40 dup (2.3% each). Among the 20 infants with the c.211G>A variant, eight (40.0%) had a homozygous genotype and 12 (60.0%) had a heterozygous genotype. Infants harboring other variants exhibited heterozygous genotypes. When comparing the group with confirmed UGT1A1 mutations to the group without detected mutations, breastfeeding was the only significant factor (p=0.027). No significant differences were found between the group with singlenucleotide variants and the group with multiple genetic variants or between the homozygous genotype group with c.211G>A and the heterozygous genotype group.Conclusion: Neonates with prolonged unconjugated hyperbilirubinemia may have a higher chance of UGT1A1 mutation than expected. Analysis of UGT1A1 mutations may be beneficial in infants with prolonged unexplained jaundice.

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“…Clinical studies have demonstrated a significant correlation between the UGT1A1*28 polymorphism and the pharmacokinetics of drugs [10][11][12]. Finally, a significant association was observed between prolonged jaundice in male infants and UGT1A1 G71R polymorphism (G211A mutation in coding exon 1 of UGT1A1 gene) [13]. The coding region polymorphism is found only in Asians and is associated with decreased enzyme function, whereas the promoter polymorphism is associated with decreased gene expression.…”

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Molecular probes for identification of UDP-glucuronosyltransferase 1 gene polymorphisms for Gilbert's syndrome diagnosis

Wu¹,

Zhou²,

Song³

et al. 2018

biomedicalresearch

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The T-3279G mutation in Phenobarbital Responsive Enhancer Modulein (PBREM), TA-insertion in the TATA box, creating the A(TA)7TAA motif instead of the A(TA)6TAA, and G211A mutation in coding exon 1, particularly in Asians, of human UGT1A1 (UDP-glucoronosyltransferase) gene are the three common polymorphisms of Gilbert's syndrome. This article employed dot blot hybridization to detect the T-3279G, A(TA)6/7TAA and G211A mutation of UGT1A1 gene in 15 patients. In the dot blot hybridization assay, PCR products were denatured and spotted on positively charged nylon membranes instead of acrylamide-modified slides. Then three pairs of probes were labeled by digoxigenin and hybridized with the spotted array. After hybridization, the signal was visualized using TMB color development solution and all possible polymorphisms of the T-3279G, A(TA)6/7TAA and G211A in 15 Chinese patients with hyperbilirubinemia were successfully identified. The results of 15 samples by dotblot hybridization were consistent with the sequencing results. The data showed that dot blot hybridization assay is a quick and low cost method to detect UGT1A1 gene polymorphisms and helpful to diagnosis of Gilbert's syndrome.

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The Association between Prolonged Jaundice and UGT1A1 Gene Polymorphism (G71R) in Gilbert's Syndrome

Cited by 6 publications

References 24 publications

UGT1A1*6 mutation associated with the occurrence and severity in infants with prolonged jaundice

UGT1A1*6 mutation associated with the occurrence and severity in infants with prolonged jaundice

Should We Consider UGT1A1 Mutation Analysis in Evaluating the Prolonged Jaundice of Newborn Infants?

Molecular probes for identification of UDP-glucuronosyltransferase 1 gene polymorphisms for Gilbert's syndrome diagnosis

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