Study of the Association Between Polymorphisms of the COL1A1 Gene and HBV-Related Liver Cirrhosis in Chinese Patients
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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.
KeywordsCirrhosis Fibrosis Collagen Polymorphism Promoter
This work was supported by the National Natural Science Foundation of China (No. 30270605 and No. 30571774). The authors are grateful for the kindly supply of LX-2 cell line by Professor Dr Scott L. Friedman from the USA.
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