Gökhan Büyükkale, Gülcan Turker, Murat Kasap, Gürler Akpınar, Engin Arısoy, Ayla Günlemez, Ayse Gökalp
Department of Neonatology, Kocaeli University, Turkey.
American journal of perinatology 2011 SepThe 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. © Thieme Medical Publishers.
Gökhan Büyükkale, Gülcan Turker, Murat Kasap, Gürler Akpınar, Engin Arısoy, Ayla Günlemez, Ayse Gökalp. Neonatal hyperbilirubinemia and organic anion transporting polypeptide-2 gene mutations. American journal of perinatology. 2011 Sep;28(8):619-26
PMID: 21500146
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