Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE In the hepatic siderosis group, C282Y homozygotes had significantly higher hepatic iron and ferritin levels, a significantly lower prevalence of hepatitis C virus or alcoholic liver disease, but no significant difference in the saturation of serum transferrin. 9576576

1998

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE Siderotic patients had the same geographic origin, serum and liver HCV RNA levels and H63D and C282Y mutations frequency as non-siderotic patients. 10568758

2000

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE Siderotic patients had the same geographic origin, serum and liver HCV RNA levels and H63D and C282Y mutations frequency as non-siderotic patients. 10568758

2000

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The 2 known HFE mutations, cysteine 282 tyrosine (Cys282Tyr) and histidine 63 asparagine (His63Asp), were detected by polymerase chain reaction, and anti-HCV immunoglobulin G was detected serologically. 10688809

2000

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE Hepatic damage was most marked in patients with the Cys282Tyr/Cys282Tyr genotype who had HCV and drank heavily. 10688809

2000

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The recent identification of 2 mutations in the HFE gene related to hereditary haemochromatosis (Cys282Tyr and His63Asp) provided an opportunity to test whether they are associated with hepatic iron accumulation and the activity and severity of liver disease in hepatitis C virus (HCV) infection. 10692680

2000

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE The recent identification of 2 mutations in the HFE gene related to hereditary haemochromatosis (Cys282Tyr and His63Asp) provided an opportunity to test whether they are associated with hepatic iron accumulation and the activity and severity of liver disease in hepatitis C virus (HCV) infection. 10692680

2000

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE In this study we analyzed the livers of 50 transplant patients with a diagnosis of either hepatitis C cirrhosis or cryptogenic cirrhosis for the prevalence of the more common C282Y mutation of the HFE gene and correlated the findings to hepatic iron concentration. 11079015

2000

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The aim of the present study was to investigate the frequency of C282Y and H63D mutations and HCV infection in Brazilian patients with PCT and their relationship with iron overload. 11151887

2000

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. 11151887

2000

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE Liver and peripheral blood were studied in 37 C282Y homozygous HH patients; nine normal livers and 11 livers from patients with cirrhosis due to hepatitis C virus or alcoholic liver disease were also investigated. 11168438

2001

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE The Cys282Tyr allele was significantly overrepresented in hepatitis C patients (0.12 v. 0.07, P < 0.05) and principally in patients with the Hp 2-1 and 2-2 phenotypes. 11564959

2001

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE C282Y or H63D heterozygosity is an independent risk factor for liver fibrosis and cirrhosis in HCV infected individuals. 12586300

2003

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE C282Y or H63D heterozygosity is an independent risk factor for liver fibrosis and cirrhosis in HCV infected individuals. 12586300

2003

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE C282Y mutations and HCV infection but not H63D or S65C mutations are PCT-triggering or associated factors in the south of France. 12673077

2003

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE By multivariate logistic regression analysis the odds ratio for the development of advanced fibrosis or cirrhosis (F2-F4) was 2.5 for HCV-infected patients carrying a heterozygous C282Y mutation and 4.8 for HCV-infected patients with C282Y/H63D and C282Y/S65C compound heterozygosity. 14557859

2003

dbSNP: rs1133763
rs1133763
0.010 GeneticVariation BEFREE In conclusion, our study suggests a possible role of the polymorphisms CCR5-delta32, RANTES -403, and MCP-2 Q46K in the outcome of HCV infection. 14647058

2003

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE our results suggest that the C282Y mutation, but not the H63D mutation, of the HFE gene is frequently associated with stainable iron in the liver in HCV-related chronic hepatitis. 14972004

2003

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE our results suggest that the C282Y mutation, but not the H63D mutation, of the HFE gene is frequently associated with stainable iron in the liver in HCV-related chronic hepatitis. 14972004

2003

dbSNP: rs1799864
rs1799864
0.040 GeneticVariation BEFREE The G190A polymorphism (variant allele Ile64) in the first transmembrane domain of CCR2 was under-represented in the 29 patients who had cleared the hepatitis C virus spontaneously (P = 0.018). 15086398

2004

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE Twenty-two patients (44%) were HCV-RNA positive; six out of them were heterozygous for H63D mutation, one only for the C282Y mutation and one was compound heterozygous for both mutations. 15101996

2004

dbSNP: rs1799864
rs1799864
0.040 GeneticVariation BEFREE The CCR2-V64I allele was present in 24 of 278 HCV chromosomes (8.6%) and 19 of 200 control chromosomes (9.5%). 15230854

2004

dbSNP: rs763059810
rs763059810
0.010 GeneticVariation BEFREE The CCR2-V64I allele was present in 24 of 278 HCV chromosomes (8.6%) and 19 of 200 control chromosomes (9.5%). 15230854

2004

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE Although statistically not significant, allele frequencies of H63D mutation in hepatitis B-related liver cirrhosis (6%) and hepatitis C-related liver cirrhosis (9.1%) were higher than those in healthy control (2%). 15780041

2005

dbSNP: rs77010898
rs77010898
0.010 GeneticVariation BEFREE Two controls (3.3%) carried a single CF mutation (DeltaF508 in one primary biliary cirrhosis patient; W1282X in one hepatitis C patient). 15784035

2005