Neonatal Hyperbilirubinemia and Organic Anion Transporting Polypeptide-2 Gene Mutations

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Buyukkale G., Turker G., Kasap M., Akpınar G., Arisoy E., Günlemez A., ...Daha Fazla

AMERICAN JOURNAL OF PERINATOLOGY, cilt.28, sa.8, ss.619-626, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 8
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1055/s-0031-1276736
  • Dergi Adı: AMERICAN JOURNAL OF PERINATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.619-626
  • Anahtar Kelimeler: Newborn, organic anion transporting polypeptide 2 gene, polymorphism, nonphysiological hyperbilirubinemia, OATP-C SLC21A6, UGT1A1 GENE, GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY, UNCONJUGATED HYPERBILIRUBINEMIA, GLUCURONOSYLTRANSFERASE GENE, GILBERTS-SYNDROME, CRIGLER-NAJJAR, BILIRUBIN, POLYMORPHISMS, PROMOTER
  • Kocaeli Üniversitesi Adresli: Evet

Özet

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.