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Genetic association between the collagen type III alpha 1 polymorphism and its haplotypes with chronic hepatitis B in Koreans
Author(s) -
Lee Seung Ku,
Yi CheongHo,
Kim MinHo,
Cheong Jae Youn,
Cho Sung Won,
Kang Jason Jongho,
Yang SongJu,
Kwack KyuBum
Publication year - 2008
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.22.1_supplement.709.1
Subject(s) - haplotype , single nucleotide polymorphism , hepatocellular carcinoma , genotyping , allele , cirrhosis , snp , genotype , polymorphism (computer science) , medicine , genetics , biology , gastroenterology , gene
The expression of collagens appears to be related to chronic hepatitis (CH), liver cirrhosis (LC), and hepatocellular carcinoma (HCC). The authors investigated whether a single nucleotide polymorphism of collagen type III alpha 1 (COL3A1), confers genetic susceptibility to liver diseases. Genotyping was performed on 117 patients with CH and 117 spontaneous recovery (SR) controls. The allele of two SNPs of COL3A1 were highly associated with CH to compared with SR in allele model (P = 0.009 and P = 0.035, respectively). Haplotype and diplotype analysis showed significantly associated with the SR and CH (P = 0.005~0.044). We found that intronic SNP, haplotypes, and diplotypes of COL3A1 were strongly associated with the HBV clearance and CH.