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 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.
Department of Laboratory Medicine, Eastern Hepatobiliary Hospital, Second Military Medical University, 225 Changhai Road, Shanghai, China.
Yun-Peng
YP
Zhao
Hao
H
Wang
Meng
M
Fang
Qiang
Q
Ji
Zai-Xing
ZX
Yang
Chun-Fang
CF
Gao
D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People; D002681:China; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D015870:Gene Expression / Q000187:drug effects; D005787:Gene Frequency; D017930:Genes, Reporter; D005838:Genotype; D019694:Hepatitis B, Chronic / Q000150:complications*; D006801:Humans; D054643:INDEL Mutation; D007371:Interferon-gamma / Q000494:pharmacology; D015810:Linkage Disequilibrium; D008103:Liver Cirrhosis / Q000235:genetics* / Q000821:virology; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D055815:Young Adult
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D007371:Interferon-gamma