Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HFE

Gene name: hemochromatosis
OMIM ID: 613609
Chromosome location: 6p22.2

Polymorphisms

Disease/Phenotypehepatocellular carcinoma, susceptibility to
Reference transcriptNM_000410.3
DNA Changec.187C>G
A.A. Changep.His63Asp
Exon/Intronexon 2
Variation Typesubstitution
Reference SNPrs1799945
Cases53 HBV-advanced liver disease
Controls70 Asymptomatic HBV carriers
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
H0.7830.9071
D0.2170.0932.70 (1.30-5.64)0.006
H/H34571
H/D15131.93 (0.82-4.55)0.127
D/D4015 (0.78-287.18)0.012
H/D + D/D19132.45 (1.07-5.58)0.030
CommentsCarriers of the HFE-H63D polymorphism infected with HBV are significantly at higher risk to progress towards an advanced liver disease compared with patients infected with HBV with wild-type (H/H) ,
ReferenceEzzikouri S, Rebbani K, Mostafa A, El Feydi AE, Afifi R, Brahim I, Kitab B, Benazzouz M, Kandil M, Nadifi S, Pineau P, Benjelloun S. Influence of mutation of the HFE gene on the progression of chronic viral hepatitis B and C in Moroccan patients.
J Med Virol. 2011 Dec;83(12):2096-102.
Disease/Phenotypehepatocellular carcinoma, susceptibility to
Reference transcriptNM_000410.3
DNA Changec.845G>A
A.A. Changep.Cys282Tyr
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1800562
Cases53 HBV-advanced liver disease
Controls70 Asymptomatic HBV carriers
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.9910.9861
Y0.0090.0140.66 (0.06-7.34)1
C/C52681
C/Y120.65 (0.06-7.41)0.730
Y/Y001.30 (0.02-66.85)1
CommentsThe frequency of HFE-C282Y polymorphism was higher in patients with advanced liver disease compared with asymptomatic HBV carriers. However, this difference was not statistically significant.
ReferenceEzzikouri S, Rebbani K, Mostafa A, El Feydi AE, Afifi R, Brahim I, Kitab B, Benazzouz M, Kandil M, Nadifi S, Pineau P, Benjelloun S. Influence of mutation of the HFE gene on the progression of chronic viral hepatitis B and C in Moroccan patients.
J Med Virol. 2011 Dec;83(12):2096-102.