Balkan Journal of Medical Genetics

DO GENE POLYMORPHISMS PLAY A ROLE IN NEWBORN HYPERBILIRUBINEMIA?
Hakan N, Aydin M, Ceylaner S, Di̇lli̇ D, Zenci̇roğlu A, Okumuş N
*Corresponding Author: Assoc. Prof. Nilay Hakan, MD, Division of Neonatology, Sitki Koçman University School of Medicine, Orhaniye Mah., Haluk Ozsoy Sk., 48000, Muğla / Türkiye, Phone: +90 (252) 214 13 26, Fax: +90 (252) 211 13 45, E-mail: nhakan@hotmail.com
page: 51

INTRODUCTION

Hyperbilirubinemia is a common finding in the neonatal period and can sometimes lead to serious con- sequences such as kernicterus. Most cases of neonatal hyperbilirubinemia (NH) are physiological, and approxi- mately 13.4% of the cases are non-physiological [1, 2]. In approximately half of cases of pathological jaundice, there is no identifiable factor [3]. Studies have shown that Afri- can newborns have lower serum bilirubin levels and Asian babies develop higher values than their Caucasian coun- terparts [4]. In a study, the incidence of non-physiological significant hyperbilirubinemia in Turkish newborns was found to be between approximately 10.5% and 25.3% [5]. This may be due to differences in the genetic backgrounds of the populations, suggesting the existence of genetic risk factors for the development of NH [6]. Unconjugated bilirubin is rapidly and selectively taken up across the basolateral membrane of the hepatocyte as a carrier-mediated process involving the partially dissolved carrier organic anion-carrying polypeptide-1B1/B3 (SL- CO1B1 and SLCO1B3 genes). SLCO1B1 and SLCO1B3 are sinusoidal transporters that facilitate hepatic uptake of a wide variety of endogenous substrates [1, 2]. In hepatocytes, glutathione S-transferases (GSTs) are involved in binding to nonsubstrate ligands, such as unconjugated bilirubin [3]. Unconjugated bilirubin is then conjugated with glucuro- nate through the enzyme activity of uridine diphosphate glucuronyl transferase (UGT1A1 gene) [1]. In particular, polymorphisms of four genes specifically related to bili- rubin production and metabolism (UGT1A1, SLCO1B1, SLCO1B3, and ⁄ or GST) may interact with environmental contributors to produce significant hyperbilirubinemia [3, 7]. The aim of this study is to investigate whether poly- morphisms in the UGT1A1, SLCO1B1, SLCO1B3 and GST genes are a contributing factor to idiopathic hyperbiliru- binemia or prolonged jaundice with unexplained etiology in Turkish newborns.

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