Related Experiment Video

Updated: May 9, 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

Polymorphism of ITGB2 gene 3'-UTR+145C/A is associated with biliary atresia

Rui Zhao, Zai Song, Rui Dong

    Digestion
    |August 8, 2013
    PubMed

    Insights

    Genetic variations in the ITGB2 gene may influence biliary atresia (BA) risk. A specific polymorphism in the ITGB2 3'-UTR region was significantly associated with increased BA susceptibility in infants.

    Area of Science:

    • Genetics
    • Pediatric Hepatology
    • Molecular Biology

    Background:

    • Biliary atresia (BA) is a severe infant liver disease with unknown etiology.
    • Potential causes include infectious, immune, and genetic factors.
    • Investigating genetic susceptibility is crucial for understanding BA.

    Purpose of the Study:

    • To determine if ITGB2 (CD18) gene polymorphisms are associated with biliary atresia (BA) susceptibility.
    • To identify specific genetic variants that may contribute to BA pathogenesis.

    Main Methods:

    • Genotyping of the ITGB2 gene promoter and 16 exons in 106 BA patients and 108 controls.
    • Association analysis using Fischer's exact test.
    • Reporter gene assay to evaluate the functional impact of identified polymorphisms.

    Main Results:

    • Six single nucleotide polymorphisms (SNPs) in the ITGB2 gene were identified: one in the promoter and five in exons.
    • No significant differences in genotype or allelic frequencies were found for most SNPs.
    • The 3'-UTR+145C/A polymorphism showed a significantly higher C allele frequency and CC genotype in BA patients (p=0.0006).
    • Reporter gene assays confirmed higher activity for the risk allele (3'-UTR+145 C).

    Conclusions:

    • The ITGB2 3'-UTR+145C/A polymorphism is associated with an increased risk of biliary atresia.
    • This finding suggests a potential role for ITGB2 in BA pathogenesis.
    • Further research is warranted to elucidate the precise mechanisms involved.
    Abstract

    More Related Videos

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

    Published on: August 20, 2019

    Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform06:21

    Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

    Published on: May 10, 2024

    Related Concept Videos

    Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

    Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

    Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
    Multiple Allele Traits01:49

    Multiple Allele Traits

    The Concept of Multiple Allelism
    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...
    Genetic Lingo01:11

    Genetic Lingo

    Overview
    Pleiotropy01:33

    Pleiotropy

    Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
    Pedigree Analysis01:35

    Pedigree Analysis

    Overview