Related Experiment Video

Updated: May 7, 2026

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

Polymorphic variants of SLCO1B1 in neonatal hyperbilirubinemia in China

Jiebo Liu1, Jun Long, Shaofang Zhang

  • 1Department of Pediatrics, The Fifth People's Hospital of Shenzhen, No, 47 Friendship Road, Luohu District, Shenzhen, 518001, China. jiebol@126.com.

Italian Journal of Pediatrics
|October 5, 2013
PubMed

Insights

The SLCO1B1 388 G > A genetic variant is linked to higher rates of neonatal hyperbilirubinemia in Chinese infants. This finding helps understand the genetic factors contributing to jaundice in newborns.

Area of Science:

  • Genetics
  • Neonatology
  • Pharmacogenomics

Background:

  • Neonatal hyperbilirubinemia is a common clinical issue.
  • The solute carrier organic anion transporter family member 1B1 (SLCO1B1) plays a role in bilirubin transport.
  • Genetic variations in SLCO1B1 may influence bilirubin levels.

Purpose of the Study:

  • To investigate the association between SLCO1B1 genetic polymorphisms and hyperbilirubinemia in Chinese neonates.
  • To identify specific SLCO1B1 variants that increase the risk of neonatal jaundice.

Main Methods:

  • Case-control study involving 183 infants with hyperbilirubinemia and 192 controls.
  • Genotyping of SLCO1B1 using polymerase chain reaction and restriction fragment length polymorphisms.
  • Analysis of SLCO1B1 variants including 388 G > A, 521 T > C, and 463 C > A.

Main Results:

  • The SLCO1B1 388 G > A variant was significantly more frequent in neonates with hyperbilirubinemia (RR = 1.50).
  • No significant association was found for the SLCO1B1 521 T > C variant.
  • No carriage of the 463 C > A substitution was detected in the study population.

Conclusions:

  • The SLCO1B1 388 G > A polymorphism is a risk factor for neonatal hyperbilirubinemia in Chinese neonates.
  • Genetic screening of SLCO1B1 may aid in identifying infants at higher risk for jaundice.
Abstract

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Concept Videos

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...
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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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...