Abstract
BackgroundHereditary hemochromatosis (HH) is an autosomal recessive disorder mainly associated with homozygosity for the C282Y and H63D mutations in the hemochromatosis (HFE) gene. The reports about the C282Y and H63D mutations and hepatocellular carninoma (HCC) were controversial. To clarify the relationship between C282Y and H63D mutations and HCC, a meta-analysis including nine studies (1102 HCC cases and 3766 controls, mainly came from European populations) was performed.MethodsThe association was measured using random-effect (RE) or fixed-effect (FE) odds ratios (ORs) combined with 95% confidence intervals (CIs) according to the studies' heterogeneity.ResultsMeta-analysis of nine studies showed that Y allele of C282Y was associated with HCC risk: RE OR reached 1.50 (95%CI: 1.05-2.14, p for heterogeneity = 0.02, I2 = 0.57). Subgroup analysis of seven studies also showed Y allele was associated with HCC risk in healthy populations: RE OR reached 1.61 (95%CI: 1.08-2.39, p for heterogeneity = 0.04, I2 = 0.55). We further did subgroup analysis in alcoholic liver cirrhosis (LC) patients of four studies (224 cases and 380 controls) and found that both the dominant model and Y allele of C282Y were associated with HCC risk (FE OR reached 4.06, 95%CI: 2.08-7.92 and 3.41, 95%CI: 1.81-6.41, respectively). There was no distinct heterogeneity among the studies (I2 = 0). Sensitivity analyses showed the results were robust in the subgroup analysis of alcoholic LC patients.ConclusionsC282Y mutation was associated with HCC in European alcoholic LC patients.
Highlights
Hereditary hemochromatosis (HH) is an autosomal recessive disorder mainly associated with homozygosity for the C282Y and H63D mutations in the hemochromatosis (HFE) gene
Some large scale cohort studies [20,21] showed that HFE gene mutation penetrance was low and did not increase the likelihood of death from any cause among the C282Y homozygotes compared with subjects who had no C282Y mutation
Eligible studies By searching data, we found that 15 articles [7,8,9,10,11,12,13,14,15,16,17,18,19,30,31] used case-control or cohort design to explore the relationship between HFE mutation and hepatocellular carninoma (HCC)
Summary
Hereditary hemochromatosis (HH) is an autosomal recessive disorder mainly associated with homozygosity for the C282Y and H63D mutations in the hemochromatosis (HFE) gene. The reports about the C282Y and H63D mutations and hepatocellular carninoma (HCC) were controversial. Some studies reported that liver disease was the most common cause of death of patients with HH [4,5]. In 1996, Feder and colleagues [6] showed that homozygosity for mutation (C282Y, G>A, rs1800562) in the HFE gene was responsible for the majority of cases of typical phenotypic HH. Some large scale cohort studies [20,21] showed that HFE gene mutation penetrance was low and did not increase the likelihood of death from any cause among the C282Y homozygotes compared with subjects who had no C282Y mutation
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