<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>Objectives</h3><p>Polymorphisms of the uridine-diphospho-glucuronosyltransferase 1A1 (<italic>UGT1A1</italic>) gene, hepatic solute carrier organic anion transporter 1B1/B3 (<italic>SLCO1B1/3</italic>) gene, and glutathione S-transferase (<italic>GST</italic>) gene have been associated with significant hyperbilirubinemia in some populations. This study aims to determine whether the variation of <italic>UGT1A1</italic>, <italic>SLCO1B1/3</italic> and <italic>GST</italic> genes play an important role in neonatal hyperbilirubinemia in Turkish newborn infants.</p></sec>
<sec><h3>Methods</h3><p>The study included 61 idiopathic hyperbilirubinemia cases, 28 prolonged jaundice cases, and 41 controls. Ten common polymorphisms in four genes involved in bilirubin metabolism were examined. Polymerase chain reaction-restriction fragment length polymorphism method was used to detect variants of those genes.</p></sec>
<sec><h3>Results</h3><p>No association was found between the variants of <italic>UGT1A1</italic> at nt 211, the <italic>SLCO1B1</italic> gene at nt 388, 463, 521, 1463, the <italic>SLCO1B3</italic> gene at nt 334, 727+118, 1865+19721, and the <italic>GST</italic> gene at nt 313, 341, and neonatal hyperbilirubinemia. There was no difference between the case and control groups in terms of allele frequencies of these genes (except <italic>SLCO1B3</italic> at nt 334) (p>0.05 in all comparisons). The presence of the G allele of the <italic>SLCO1B3</italic> at nt 334 variant gene seemed to protect from jaundice in infants with idiopathic hyperbilirubinemia.</p></sec>
<sec><h3>Conclusion</h3><p>These gene polymorphisms currently studied do not seem to modulate the risk of hyperbilirubinemia in Turkish newborn infants.</p></sec>
</abstract>

ObjectivesPolymorphisms of the uridine-diphospho-glucuronosyltransferase 1A1 (UGT1A1) gene, hepatic solute carrier organic anion transporter 1B1/B3 (SLCO1B1/3) gene, and glutathione S-transferase (GST) gene have been associated with significant hyperbilirubinemia in some populations. This study aims to determine whether the variation of UGT1A1, SLCO1B1/3 and GST genes play an important role in neonatal hyperbilirubinemia in Turkish newborn infants.
MethodsThe study included 61 idiopathic hyperbilirubinemia cases, 28 prolonged jaundice cases, and 41 controls. Ten common polymorphisms in four genes involved in bilirubin metabolism were examined. Polymerase chain reaction-restriction fragment length polymorphism method was used to detect variants of those genes.
ResultsNo association was found between the variants of UGT1A1 at nt 211, the SLCO1B1 gene at nt 388, 463, 521, 1463, the SLCO1B3 gene at nt 334, 727+118, 1865+19721, and the GST gene at nt 313, 341, and neonatal hyperbilirubinemia. There was no difference between the case and control groups in terms of allele frequencies of these genes (except SLCO1B3 at nt 334) (p>0.05 in all comparisons). The presence of the G allele of the SLCO1B3 at nt 334 variant gene seemed to protect from jaundice in infants with idiopathic hyperbilirubinemia.
ConclusionThese gene polymorphisms currently studied do not seem to modulate the risk of hyperbilirubinemia in Turkish newborn infants.

Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

Muğla Sitki Kocman University School of Medicine

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?"}

ObjectivesPolymorphisms of the uridine-diphospho-glucuronosyltransferase 1A1 (UGT1A1) gene, hepatic solute carrier organic anion transporter 1B1/B3 (SLCO1B1/3)...

Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

Article Category: Original Article

Publié en ligne: 12 mars 2024

Pages: 51 - 58

DOI: https://doi.org/10.2478/bjmg-2023-0021

Mots clés
Neonatal hyperbilirubinemia, gene polymorphisms,

© 2023 N Hakan et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

Article Category: Original Article

Publié en ligne: 12 mars 2024

Pages: 51 - 58

DOI: https://doi.org/10.2478/bjmg-2023-0021

Mots clésNeonatal hyperbilirubinemia, gene polymorphisms,

© 2023 N Hakan et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Mots clés
Neonatal hyperbilirubinemia, gene polymorphisms,