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

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


Objective: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. Study design: The study was performed at a single centre – at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38–42 weeks) were included in the study. 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 of the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with “wild” type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA)6/(TA)6) carried the “wild” (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: 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.
Author Katarzyna Mazur-Kominek (IFB)
Katarzyna Mazur-Kominek,,
- Intercollegiate Faculty of Biotechnology UG
, Tomasz Romanowski (IFB / IB / DBiotech)
Tomasz Romanowski,,
- Department of Biotechnology
, Krzysztof Piotr Bielawski (IFB / IB / DBiotech)
Krzysztof Piotr Bielawski,,
- Department of Biotechnology
, Bogumiła Kiełbratowska
Bogumiła Kiełbratowska,,
, Krzysztof Preis
Krzysztof Preis,,
, Iwona Domżalska-Popadiuk
Iwona Domżalska-Popadiuk,,
, Magdalena Słomińska-Frączek
Magdalena Słomińska-Frączek,,
, Katarzyna Sznurkowska
Katarzyna Sznurkowska,,
, Joanna Renke (FB / DB)
Joanna Renke,,
- Department of Biochemistry
, Katarzyna Plata-Nazar
Katarzyna Plata-Nazar,,
et al.`
Journal seriesActa Biochimica Polonica, ISSN 0001-527X, (A 15 pkt)
Issue year2017
Publication size in sheets0.5
Keywords in EnglishUGT1A1 gene, polymorphism, hyperbilirubinemia, neonates
ASJC Classification1300 General Biochemistry, Genetics and Molecular Biology
Languageen angielski
LicenseJournal (articles only); published final; Other open licence; with publication
Score (nominal)15
ScoreMinisterial score = 15.0, ArticleFromJournal
Ministerial score (2013-2016) = 15.0, ArticleFromJournal
Publication indicators WoS Citations = 2; Scopus SNIP (Source Normalised Impact per Paper): 2016 = 0.563; WoS Impact Factor: 2017 = 1.239 (2) - 2017=1.541 (5)
Citation count*2 (2019-04-22)
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* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.