Study of the association between polymorphisms of the COL1A1 gene and HBV-related liver cirrhosis in Chinese patients

Dig Dis Sci. 2009 Feb;54(2):369-76. doi: 10.1007/s10620-008-0340-9. Epub 2008 Jun 7.

Abstract

To investigate the association between polymorphisms of the COL1A1 gene and liver cirrhosis. A total of 111 liver cirrhotic patients and 95 matched controls were recruited. Polymorphisms -1997T>G, -1663 ins/del T and -1363C>G of the COL1A1 gene were detected by direct sequencing. The activities of the putative promoters containing these polymorphisms were analyzed by means of the reporter gene system. No polymorphism at -1663 ins/del T was observed in any subject. Linkage disequilibrium was shown between -1997T>G and -1363C>G. The frequency of haplotype -1997T/-1363C was significantly higher in patients than that in controls. The putative promoters containing -1997T/-1363C resulted in higher reporter gene activity in LX-2. Strong transcriptional inhibition by IFN gamma was shown in both cells. The T allele at -1997 of COL1A1 is crucial to the increased transcriptional activity. COL1A1 gene polymorphism might be associated with liver fibrogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Asian People
  • China
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Female
  • Gene Expression / drug effects
  • Gene Frequency
  • Genes, Reporter
  • Genotype
  • Hepatitis B, Chronic / complications*
  • Humans
  • INDEL Mutation
  • Interferon-gamma / pharmacology
  • Linkage Disequilibrium
  • Liver Cirrhosis / genetics*
  • Liver Cirrhosis / virology
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Promoter Regions, Genetic
  • Young Adult

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • Interferon-gamma