Correlation between polymorphism of promoter region of α1 (I) collagen gene and hepatic cirrhotic/fibrotic diseases / 第二军医大学学报

ABSTRACT

Objective: To investigate the association between polymorphisms in α1 (I) collagen (COL1A1) gene promoter region and hepatic cirrhotic/fibrotic patients with hepatitis B infection. Methods: Three polymorphisms within COL1A1 promoter region were genotyped in 111 Chinese liver cirrhotic patients with chronic HBV infection and 95 healthy controls by direct DNA sequencing. Allelic and genotypic associations of these polymorphisms with liver cirrhosis were examined. The association between haplotype distribution, haplotype frequency and liver cirrhosis was analyzed by haplotype software. Results: No polymorphisms at position - 1662del/insT of COL1A1 gene were observed in subjects of both groups. There was no statistical difference in the genotype frequencies at position - 1997T>G or - 1363C>G in both groups. The frequency of haplotype - 1997T/-1363C in the diseased group was significantly higher than that in the normal control group (PG, - 1363C>G might be correlated with liver cirrhosis.