Study of the Association Between Polymorphisms of the COL1A1 Gene and HBV-Related Liver Cirrhosis in Chinese Patients

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 IFNγ 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.