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

Katarzyna Mazur - Kominek; Tomasz Romanowski; Krzysztof 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

doi:10.18388/abp.2016_1450

Katarzyna Mazur - Kominek Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdańsk and Medical University of Gdańsk, Abrahama 58, 80-307 Gdańsk
Tomasz Romanowski Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Abrahama 58, 80-307 Gdańsk, Poland;
Krzysztof Bielawski Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Abrahama 58, 80-307 Gdańsk, Poland;
Bogumiła Kiełbratowska Department of Obstetrics, Medical University of Gdansk, Kliniczna 1A, 80-402 Gdansk, Poland
Krzysztof Preis Department of Obstetrics, Medical University of Gdansk, Kliniczna 1A, 80-402 Gdansk, Poland
Iwona Domżalska - Popadiuk Department of Neonatology, Medical University of Gdansk, Kliniczna 1A, 80-402 Gdansk, Poland
Magdalena Słomińska - Frączek Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Nowe Ogrody 1-6, 80-803 Gdansk, Poland
Katarzyna Sznurkowska Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Nowe Ogrody 1-6, 80-803 Gdansk, Poland
Joanna Renke Department of General and Medical Biochemistry University of Gdańsk, Wita Stwosza 59, 80-306 Gdańsk
Katarzyna Plata-Nazar Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Nowe Ogrody 1-6, 80-803 Gdansk, Poland
Karolina Śledzińska Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Nowe Ogrody 1-6, 80-803 Gdansk, Poland
Grażyna Sikorska - Wiśniewska Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Nowe Ogrody 1-6, 80-803 Gdansk, Poland
Magdalena Góra - Gębka Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Nowe Ogrody 1-6, 80-803 Gdansk, Poland
Anna Liberek Faculty of Health Sciences with Subfaculty of Nursing, Medical University of Gdansk, M. Sklodowskiej-Curie 3a, 80-211 Gdańsk, Poland.

DOI: https://doi.org/10.18388/abp.2016_1450

Abstract

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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