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Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C.

Hongjin Huang1, Mitchell L Shiffman, Ramsey C Cheung

  • 1Celera Diagnostics, Alameda, California, USA. hongjin.huang@celera.diagnostics.com

Gastroenterology
|May 16, 2006

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View abstract on PubMed

Summary

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  • Biomedical And Clinical Sciences
  • Oncology And Carcinogenesis
  • Predictive And Prognostic Markers
  • Identification Of Two Gene Variants Associated With Risk Of Advanced Fibrosis In Patients With Chronic Hepatitis C.
    • This summary is machine-generated.

    Genetic variations in DDX5 and CPT1A genes can predict advanced fibrosis risk in chronic hepatitis C (CHC) patients. Specific DDX5 alleles increase risk, while CPT1A alleles decrease it, aiding in personalized risk assessment.

    Area of Science:

    • Genetics
    • Hepatology
    • Molecular Biology

    Background:

    • Clinical risk factors for advanced fibrosis in chronic hepatitis C (CHC) are insufficient for accurate patient prediction.
    • Identifying genetic markers can improve risk stratification for CHC-related fibrosis.

    Purpose of the Study:

    • To identify genetic polymorphisms that predict the risk of advanced fibrosis in patients with CHC.
    • To investigate single nucleotide polymorphisms (SNPs) associated with fibrosis progression in CHC.

    Main Methods:

    • A gene-centric disease association study of 24,832 SNPs in 916 CHC patients.
    • Validation of significantly associated SNPs in a replication cohort.
    • Analysis of missense SNPs and diplotype groups for fibrosis risk.

    Main Results:

    • A missense SNP in the DEAD box polypeptide 5 (DDX5) gene was associated with increased advanced fibrosis risk (OR 1.8-2.2).
    • DDX5-POLG2 haplotypes also showed increased risk for advanced fibrosis.
    • A missense SNP in the carnitine palmitoyltransferase 1A (CPT1A) gene was associated with decreased advanced fibrosis risk (OR 0.3-0.6).

    Conclusions:

    • Carriage of the DDX5 minor allele or DDX5-POLG2 haplotypes increases advanced fibrosis risk in CHC patients.
    • Carriage of the CPT1A minor allele decreases the risk of advanced fibrosis in CHC patients.
    • Genetic polymorphisms in DDX5 and CPT1A serve as predictive markers for advanced fibrosis in CHC.

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