Association between uridin diphosphate glucuronosylotranserase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia

Mazur-Kominek, Katarzyna; Romanowski, Tomasz; Bielawski, Krzysztof Piotr; Kiełbratowska, Bogumiła; Preis, Krzysztof; Domżalska-Popadiuk, Iwona; Słomińska-Frączek, Magdalena; Sznurkowska, Katarzyna; Renke, Joanna; Plata-Nazar, Katarzyna; Śledzińska, Karolina; Sikorska-Wiśniewska, Grazyna; Góra-Gębka, Magdalena; Liberek, Anna

doi:10.18388/abp.2016_1450

Cited by 14 publications

(11 citation statements)

References 33 publications

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“…We found a similar frequency of UGT1A1 * 60 SNPs in our population compared to wild-type. Those with this SNP are widely-known to have decreased transcriptional activity of UGT1A1 (about 60%) via an impaired gtPBREM (12, 18). This finding, however, contrasts what was reported for the Malaysian population, in which a higher frequency of UGT1A1 * 60 SNPs was observed (11).…”

Section: Discussionmentioning

confidence: 99%

“…SNPs of * 60 was found to co-exist with * 28 (40). It has been hypothesized that co-existence of both * 60 and * 28 SNPs would decrease the transcriptional activity of UGT1A1 by 70% (18). However, our study shows that no association could be found between individual nor multiple SNPs with developing moderate-to-severe hyperbilirubinemia compared to mild hyperbilirubinemia [OR of 1.05 (0.36–3.05) for heterozygotes and 2.4 (0.21–125.93) for homozygotes].…”

Section: Discussionmentioning

confidence: 99%

“…UGT1A1 * 28 and UGT1A1 * 60 have been demonstrated to show strong linkage disequilibrium (40), and co-expression in these two promoter regions decreases the transcriptional activity to 37% of normal, more so when the homozygous alleles are present (30% of normal) (18). In our study, very few * 28 SNPs were found and therefore we could not prove this effect of this SNP combination.…”

Section: Discussionmentioning

confidence: 99%

“…In the promoter region of the gene, variant UGT1A1 * 60 (3279T > G) was found to be a common SNP in Egyptian neonates with neonatal hyperbilirubinemia (22). UGT1A1 * 60 is a SNP located in the phenobarbital-responsive enhancer module (gtPBREM) associated with decreased transcriptional activity of the UGT1A1 promoter (11, 12, 18). More recently, UGT1A1 * 93 (3156G > A), a SNP located between the TATAA box and gtPBREM, was found to show a high extent of linkage disequilibrium between UGT1A1 * 93 and UGT1A1 * 28 (11).…”

Section: Introductionmentioning

confidence: 99%

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Profiling of UGT1A16, UGT1A160, UGT1A193, and UGT1A128 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing

et al. 2019

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Background: Single nucleotide polymorphism (SNP) variants of the uridine diphosphate glucuronosyltransferase 1A1 ( UGT1A1 ) gene have been studied as an important factor in neonatal hyperbilirubinemia (jaundice) severity. Specific ethnicities, including Asians, have certain SNPs that appear more frequently than others. Aim: To identify the most common SNPs in Indonesian neonates and their association with the severity of neonatal hyperbilirubinemia. Methods: Eighty-eight inborn and outborn jaundiced infants from three different hospitals (Bengkulu, Jakarta, Biak Papua) across Indonesia were enrolled in this cross-sectional study and their peak total serum bilirubin (TSB) levels assessed. SNP variant analyses of the TATAA box, promoter, and exon 1 regions of UGT1A1 gene from 78 of the 88 infants were carried out using the SNaPshot R Multiplex Polymerase Chain Reaction (PCR) System followed by DNA sequencing. Results: We detected SNP variants UGT1A1 * 28, UGT1A1 * 60, UGT1A1 * 93 , and UGT1A1 * 6 in our population. Mean total serum bilirubin (TSB) was 14.59 ± 5.57 mg/dL. Bivariate analyses using delivery location, gestational age, birth weight, mother's age, and ethnicity were shown to be associated with moderate-to-severe hyperbilirubinemia ( p < 0.05). None of the four SNPs appeared to be associated with moderate-to-severe hyperbilirubinemia. In multivariate analysis, however, only the “other ethnic group” (e.g., Chinese, Bengkulu, Papua, Bima) category showed an association with moderate-to-severe hyperbilirubinemia, with an odds ratio of 6.49 (95% CI 1.01–41.67; p < 0.05). Conclusions: We found that the UGT1A1 * 60 is the most common SNP detected in neonates with hyperbilirubinemia in the Indonesian population. Interestingly, in Indonesia, UGT1A1 polymorphisms do not appear to be associated with differences in the severity of hyperbilirubinemia.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Profiling of UGT1A16, UGT1A160, UGT1A193, and UGT1A128 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing

et al. 2019

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“…If more research data can be obtained, a more accurate analysis could be performed. Other variables can be used, including race, age, family history, environmental factors and lifestyle [ 29 – 32 ].…”

Section: Discussionmentioning

confidence: 99%

The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility

Song

Hao

2020

BMC Med Genet

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Background Neonatal hyperbilirubinemia (NNH) is a common disease in newborns. This research study aimed to assess the associations between uridine diphospho-glucuronate-glucuronosyltransferase 1A1 (UGT1A1, c.-3279 T > G) polymorphisms and NNH risk. Methods We searched PubMed, the Cochrane Library, and the Embase electronic databases. All published eligible studies before July 1, 2019, were searched for this meta-analysis. Results We identified 7 independent studies including 1560 cases. The data showed that in the general population, compared with the GT + GG vs TT and GG vs TT, c.-3279 T > G (rs4124874) was significantly related to a higher NNH risk (GG vs TT: OR = 1.865, 95% CI: 1.031–3.373, P = 0.039; GT + GG vs TT: OR = 1.331, 95% CI: 1.055–1.679, P = 0.016). Although not statistically significant, the data showed that c.3279 T > G had a tendency to be associated with NNH under the allele model and GG vs GT + TT in the overall population (G vs T: OR = 1.288, 95% CI: 0.982–1.689, P = 0.067; GG vs TT + GT: OR = 1.583, 95% CI: 0.947–2.647, P = 0.080). Conclusion The UGT1A1 gene c.-3279 T > G (rs4124874) polymorphism increased susceptibility to NNH, especially for the comparison of GT + GG vs TT and GG vs TT. In the future, we can use homozygous state of the UGT1A1 gene c.-3279 T > G (rs4124874) polymorphism for the diagnosis and screening of molecular biomarkers in NNH patients.

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A Molecular‐Splicing Strategy for Constructing a Near‐Infrared Fluorescent Probe for UDP‐Glucuronosyltransferase 1A1

Tian

Liu

et al. 2021

Angewandte Chemie

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UDP-glucuronosyltransferase 1A1 (UGT1A1) is av ital metabolic enzyme responsible for the clearance of endogenous substances and drugs.H itherto,t he development of fluorescent probes for UGTs was severely restricted due to the poor isoform selectivity and on-off or blue-shifted fluorescence response.Herein, we established anovel "molecular-splicing" strategy to construct ah ighly selective nearinfrared (NIR) fluorescent probe, HHC,f or UGT1A1, which exhibited aN IR signal at 720 nm after UGT1A1 metabolism. HHC was then successfully used for the real-time imaging of endogenous UGT1A1 in living cells and animals and to monitor the bile excretion function. In summary,a ni soformspecific NIR fluorescent probe has been developed for monitoring UGT1A1 activity in living systems,h igh-throughput screening of novel UGT1A1 inhibitors and visual evaluation of bile excretion function.

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Association between uridin diphosphate glucuronosylotranserase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia

Abstract: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.

Cited by 14 publications

References 33 publications

Profiling of UGT1A16, UGT1A160, UGT1A193, and UGT1A128 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing

Profiling of UGT1A16, UGT1A160, UGT1A193, and UGT1A128 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing

The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility

A Molecular‐Splicing Strategy for Constructing a Near‐Infrared Fluorescent Probe for UDP‐Glucuronosyltransferase 1A1

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Association between uridin diphosphate glucuronosylotranserase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia

Abstract: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.

Cited by 14 publications

References 33 publications

Profiling of UGT1A1*6, UGT1A1*60, UGT1A1*93, and UGT1A1*28 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing

Profiling of UGT1A1*6, UGT1A1*60, UGT1A1*93, and UGT1A1*28 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing

The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility

A Molecular‐Splicing Strategy for Constructing a Near‐Infrared Fluorescent Probe for UDP‐Glucuronosyltransferase 1A1

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Product

Resources

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Profiling of UGT1A16, UGT1A160, UGT1A193, and UGT1A128 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing

Profiling of UGT1A16, UGT1A160, UGT1A193, and UGT1A128 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing