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

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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 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.

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Acknowledgments

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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Authors and Affiliations

  1. Department of Laboratory Medicine, Eastern Hepatobiliary Hospital, Second Military Medical University, 225 Changhai Road, Shanghai, China

    Yun-Peng Zhao, Meng Fang, Qiang Ji & Chun-Fang Gao

  2. Department of Laboratory Medicine, Changzheng Hospital, Second Military Medical University, Shanghai, China

    Hao Wang & Zai-Xing Yang

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  1. Yun-Peng Zhao
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Correspondence to Chun-Fang Gao.

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Y.-P. Zhao and H. Wang have contributed equally to this work.

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Zhao, YP., Wang, H., Fang, M. et al. Study of the Association Between Polymorphisms of the COL1A1 Gene and HBV-Related Liver Cirrhosis in Chinese Patients. Dig Dis Sci 54, 369–376 (2009). https://doi.org/10.1007/s10620-008-0340-9

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  • DOI: https://doi.org/10.1007/s10620-008-0340-9

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