Neonatal Hyperbilirubinemia and Organic Anion Transporting Polypeptide-2 Gene Mutations

作者：Buyukkale Gokhan; Turker Gulcan^*; Kasap Murat; Akpinar Gurler; Arisoy Engin; Gunlemez Ayla; Gokalp Ayse

来源：American Journal of Perinatology, 2011, 28(8): 619-626.

DOI：10.1055/s-0031-1276736

• Newborn
• organic anion transporting polypeptide 2 gene
• polymorphism
• nonphysiological hyperbilirubinemia

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.

• 出版日期2011-9