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.
Zhao
Yun-Peng
YP
Department of Laboratory Medicine, Eastern Hepatobiliary Hospital, Second Military Medical University, 225 Changhai Road, Shanghai, China.
Wang
Hao
H
Fang
Meng
M
Ji
Qiang
Q
Yang
Zai-Xing
ZX
Gao
Chun-Fang
CF
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