title: Neonatal hyperbilirubinemia and organic anion transporting polypeptide-2 gene mutations.
abstract: The aim of this study was to investigate the genotypic distribution of organic anion transporting polypeptide 2 (OATP-2) gene mutations and the relationship with hyperbilirubinemia of unknown etiology. Polymerase chain reaction, restriction fragment length polymorphism, and agarose gel electrophoresis techniques were used for detection of OATP-2 gene mutations in 155 newborn infants: 37 with unexplained hyperbilirubinemia, 65 with explained hyperbilirubinemia, and 53 without hyperbilirubinemia. In the OATP-2 gene, we identified A→G transitions at nucleotide positions 388 and 411 and observed six polymorphic forms. The 388/411-411 mutation was the most common form (43%) in subjects with hyperbilirubinemia of unknown etiology. Male sex [odds ratio (OR): 3.08] and two polymorphic forms of the OATP-2 gene [the 388/411-411 A→G mutation (OR: 3.6) and the 388-411 mutation (OR: 2.4)] increased the risk of neonatal hyperbilirubinemia. In male infants with the 388 A→G mutation of the OATP-2 gene, the levels of unconjugated bilirubin in plasma were significantly increased compared with those observed in females. The polymorphic forms of 388 nucleotide of the OATP-2 gene were identified as risk factors for hyperbilirubinemia of unknown etiology.
authors.affiliation: Department of Neonatology, Kocaeli University, Turkey.
authors.forename: Gökhan
authors.initials: G
authors.lastname: Büyükkale
authors.forename: Gülcan
authors.initials: G
authors.lastname: Turker
authors.forename: Murat
authors.initials: M
authors.lastname: Kasap
authors.forename: Gürler
authors.initials: G
authors.lastname: Akpınar
authors.forename: Engin
authors.initials: E
authors.lastname: Arısoy
authors.forename: Ayla
authors.initials: A
authors.lastname: Günlemez
authors.forename: Ayse
authors.initials: A
authors.lastname: Gökalp
mesh_terms: D016022:Case-Control Studies; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D007231:Infant, Newborn; D027381:Liver-Specific Organic Anion Transporter 1 / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D009154:Mutation; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors; D014421:Turkey
chemical_list: D027381:Liver-Specific Organic Anion Transporter 1