G71R mutation of the UGT1A1 gene is not associated with neonatal hyperbilirubinemia in India

Abstract 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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UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia

BMC Research Notes ◽

10.1186/s13104-018-3284-y ◽

2018 ◽

Vol 11 (1) ◽

Cited By ~ 2

Author(s):

Radhian Amandito ◽

Raihandhana Putradista ◽

Clara Jikesya ◽

Dwi Utaminingsih ◽

Jumnalis Rusin ◽

...

Keyword(s):

Neonatal Hyperbilirubinemia ◽

Ugt1a1 Gene ◽

Preliminary Study

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

Acta Biochimica Polonica ◽

10.18388/abp.2016_1450 ◽

2017 ◽

Vol 64 (2) ◽

Cited By ~ 5

Author(s):

Katarzyna Mazur - Kominek ◽

Tomasz Romanowski ◽

Krzysztof Bielawski ◽

Bogumiła Kiełbratowska ◽

Krzysztof Preis ◽

...

Keyword(s):

Molecular Probes ◽

Male Gender ◽

Neonatal Hyperbilirubinemia ◽

Variation Analysis ◽

Ugt1a1 Gene ◽

Probe System ◽

Elevated Bilirubin ◽

Fluorescent Molecular Probes ◽

Dual Probe ◽

Guthrie Cards

OBJECTIVE: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. STUDY DESIGN: DNA was isolated from Guthrie cards of 171 infants. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe™. RESULT: Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with normal (i.e. (TA)6/(TA)6) of UGT1A1*28 genotype carried the normal (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys. CONCLUSION: The polymorphisms of UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.

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