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ABSTRACT: Aim
To investigate the role of genetic polymorphisms in the progression of hepatic fibrosis in hereditary haemochromatosis.Methods
A cohort of 245 well-characterised C282Y homozygous patients with haemochromatosis was studied, with all subjects having liver biopsy data and DNA available for testing. This study assessed the association of eight single nucleotide polymorphisms (SNPs) in a total of six genes including toll-like receptor 4 (TLR4), transforming growth factor-beta (TGF-β), oxoguanine DNA glycosylase, monocyte chemoattractant protein 1, chemokine C-C motif receptor 2 and interleukin-10 with liver disease severity. Genotyping was performed using high resolution melt analysis and sequencing. The results were analysed in relation to the stage of hepatic fibrosis in m
SUBMITTER: Wood MJ
PROVIDER: S-EPMC3882410 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature