title: Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia.
abstract: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia.
  
  
  
  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™.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Mazur-Kominek
authors.affiliation: Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Romanowski
authors.affiliation: Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Bielawski
authors.affiliation: Department of Obstetrics, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Bogumiła
authors.initials: B
authors.lastname: Kiełbratowska
authors.affiliation: Department of Obstetrics, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Preis
authors.affiliation: Department of Neonatology, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Iwona
authors.initials: I
authors.lastname: Domżalska-Popadiuk
authors.affiliation: Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Słomińska-Frączek
authors.affiliation: Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Sznurkowska
authors.affiliation: Department of General and Medical Biochemistry, University of Gdansk, Gdańsk, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Renke
authors.affiliation: Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Plata-Nazar
authors.affiliation: Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Karolina
authors.initials: K
authors.lastname: Śledzińska
authors.affiliation: Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Grażyna
authors.initials: G
authors.lastname: Sikorska-Wiśniewska
authors.affiliation: Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Góra-Gębka
authors.affiliation: Faculty of Health Sciences with Subfaculty of Nursing, Medical University of Gdansk, Gdańsk, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Liberek
mesh_terms: D002648:Child; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D012727:Sex Characteristics; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme
keywords: UGT1A1 gene; hyperbilirubinemia; neonates; polymorphism