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The Association between Prolonged Jaundice and UGT1A1 Gene Polymorphism (G71R) in Gilbert's Syndrome

Ehsan Alaee1, Behnaz Bazrafshan2, Ali Reza Azaminejad3

  • 1Assistant Professor, Department of Paediatrics and Neonatology, Neonatal and Children's Health Research Center, Golestan, University of Medical Sciences , Gorgan, Iran .

Journal of Clinical and Diagnostic Research : JCDR
|January 5, 2017
PubMed

Insights

This study found no direct link between prolonged jaundice and the G71R polymorphism in Gilbert's syndrome. However, a correlation was observed between prolonged jaundice in males and this specific genetic variation.

Area of Science:

  • Medical Genetics
  • Neonatology
  • Pediatrics

Background:

  • Neonatal jaundice is common, with prolonged cases affecting many breastfed infants.
  • Genetic factors are considered influential in the incidence of neonatal jaundice.
  • This study investigated the role of genetic polymorphisms in prolonged jaundice.

Purpose of the Study:

  • To determine the association between prolonged jaundice and the G71R polymorphism in Gilbert's syndrome.
  • To explore potential genetic underpinnings of prolonged neonatal jaundice.

Main Methods:

  • A case-control study was conducted with 87 jaundiced infants (over 2 weeks) and 81 healthy controls.
  • DNA was extracted using the phenol-chloroform method.
  • Polymerase Chain Reaction with Confronting Two-Pair Primers (PCR-CTPP) was used to analyze the UGT1A1 G71R polymorphism.

Main Results:

  • No significant difference in Gilbert genotype distribution was found between study and control groups (p=0.772).
  • A correlation was observed between prolonged jaundice in males and the UGT1A1 G71R polymorphism (p=0.03).
  • Genotype frequencies (homozygous, heterozygous, normal) were detailed for both groups.

Conclusions:

  • There is no statistically significant association between prolonged jaundice and the G71R polymorphism in Gilbert's syndrome.
  • A relationship was identified between male gender and the UGT1A1 G71R polymorphism in the context of prolonged jaundice.
Abstract

Keywords:
Billirubin metabolismIcterInfants

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