Related Experiment Video

Updated: May 6, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

8.9K

UGT1A1 gene variants and clinical risk factors modulate hyperbilirubinemia risk in newborns

P K Tiwari1, A Bhutada1, R Agarwal1

  • 1Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.

Journal of Perinatology : Official Journal of the California Perinatal Association
|November 16, 2013
PubMed

Insights

Genetic variants in the UGT1A1 gene and clinical factors like sepsis significantly increase newborn hyperbilirubinemia risk. Combined genetic and clinical factors further elevate this risk.

Area of Science:

  • Neonatal Medicine
  • Medical Genetics
  • Biochemistry

Background:

  • Neonatal hyperbilirubinemia is a common clinical issue.
  • Genetic factors, particularly UGT1A1 gene variants, are implicated in bilirubin metabolism.
  • Clinical risk factors also play a role in hyperbilirubinemia development.

Purpose of the Study:

  • To investigate the combined impact of UGT1A1 gene variants and clinical risk factors on neonatal hyperbilirubinemia.
  • To identify specific UGT1A1 variants and clinical factors contributing to hyperbilirubinemia risk.

Main Methods:

  • A case-control study involving 113 hyperbilirubinemia cases and 218 controls.
  • Analysis of seven UGT1A1 gene variants and common clinical risk factors.
  • Hyperbilirubinemia defined by American Academy of Pediatrics nomogram (total serum bilirubin >95th percentile).

Main Results:

  • UGT1A1 variants (c.211G>A, g.-3279T>G, TATA box, CAT insertion) were identified as independent molecular risk factors.
  • Excessive weight loss, sepsis, and ABO incompatibility were identified as independent clinical risk factors.
  • The co-occurrence of UGT1A1 variants and clinical risk factors significantly amplified hyperbilirubinemia risk.

Conclusions:

  • Both genetic (UGT1A1 variants) and clinical factors are crucial in determining neonatal hyperbilirubinemia risk.
  • Disrupted bilirubin conjugation due to UGT1A1 gene variants contributes to the clinical presentation of neonatal hyperbilirubinemia.
Abstract

More Related Videos

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

1.7K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.6K

Related Concept Videos

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
160
Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...
44
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
143
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
100
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
189
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
414